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
DLGAP2	9228	broad.mit.edu	37	8	1513941	1513941	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:1513941C>T	ENST00000421627.2	+	3	1217	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	RP11-666I19.2_ENST00000518063.1_RNA	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	440					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACATTAAAGCCATGGGGGACG	0.572000													4	19					0	0	0.150653	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963450	73963450	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:73963450A>G	ENST00000373468.1	-	3	1593	c.942T>C	c.(940-942)taT>taC	p.Y314Y	KIAA2022_ENST00000055682.5_Silent_p.Y314Y			Q5QGS0	K2022_HUMAN	KIAA2022	314					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAAAGGATTCATATCGAATTT	0.418000													47	50					0	0	0.870114	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783631	149783631	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:149783631T>A	ENST00000427880.2	-	1	294	c.248A>T	c.(247-249)cAc>cTc	p.H83L	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.H83L|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.H83L			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	83					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CTTGTTGTAGTGCGCCAGGCG	0.667000													37	89					0	0	0.840704	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115070	27115070	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:27115070G>A	ENST00000377459.1	+	1	210	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	55					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCTGGCTGCGGTGCTGGAGTA	0.652000													26	59					0	0	0.681144	0	0
UNC13A	23025	broad.mit.edu	37	19	17756536	17756536	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17756536G>A	ENST00000428389.2	-	20	2566	c.2567C>T	c.(2566-2568)aCg>aTg	p.T856M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T768M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T766M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T768M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T768M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T768M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	768					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAATGATCGTCTGCCCCAG	0.592000													4	36					0	0	0.184627	0	0
KCNK1	3775	broad.mit.edu	37	1	233802661	233802661	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:233802661A>G	ENST00000366621.3	+	2	844	c.676A>G	c.(676-678)Att>Gtt	p.I226V	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.I110V	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	226						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCTGAGCACCATTGGCCTGGG	0.483000													35	115					0	0	0.779181	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7529551	7529551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:7529551G>A	ENST00000359920.6	+	13	2568	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.G730R|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G614E	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	772					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACATTCCTGGGAGCTCTGAG	0.557000													16	32					0	0	0.479597	0	0
AGAP2	116986	broad.mit.edu	37	12	58125675	58125675	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:58125675G>T	ENST00000257897.3	-	8	947	c.862C>A	c.(862-864)Cga>Aga	p.R288R	AGAP2_ENST00000547588.1_Silent_p.R624R	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	624	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCTCGGCTCGGAGCTCCCGG	0.607000													4	14					0.150653	0.152202	0.150653	1	0
OR4A5	81318	broad.mit.edu	37	11	51411677	51411677	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:51411677C>A	ENST00000319760.6	-	1	771	c.719G>T	c.(718-720)gGc>gTc	p.G240V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACGGTACTGCCGGAGCTGCA	0.398000													5	65					0.217242	0.218513	0.217242	1	0
NOS3	4846	broad.mit.edu	37	7	150696317	150696317	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:150696317C>A	ENST00000297494.3	+	9	1353	c.996C>A	c.(994-996)gcC>gcA	p.A332A	NOS3_ENST00000467517.1_Silent_p.A332A|NOS3_ENST00000484524.1_Silent_p.A332A|NOS3_ENST00000461406.1_Silent_p.A126A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	332	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTGGTACGCCCTCCCGGCAG	0.647000													130	124					4.07488e-59	6.83784e-59	0.870114	1	0
GABRR1	2569	broad.mit.edu	37	6	89888653	89888653	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:89888653G>T	ENST00000435811.1	-	9	1679	c.1225C>A	c.(1225-1227)Cag>Aag	p.Q409K	GABRR1_ENST00000454853.2_Missense_Mutation_p.Q426K|GABRR1_ENST00000369451.3_Missense_Mutation_p.Q339K	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGGGTCAGCTGCACCATCATC	0.542000													29	155					8.16721e-17	1.14441e-16	0.750413	1	0
KIAA0586	9786	broad.mit.edu	37	14	58927843	58927843	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:58927843G>T	ENST00000423743.3	+	15	2150	c.1892G>T	c.(1891-1893)aGa>aTa	p.R631I	KIAA0586_ENST00000261244.5_Missense_Mutation_p.R599I|KIAA0586_ENST00000556134.1_Missense_Mutation_p.R660I|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.R728I	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	599										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTAAGTCCAGACCACAGAGA	0.328000													5	16					1.23904e-05	1.35742e-05	0.184627	1	0
PSG7	5676	broad.mit.edu	37	19	43430641	43430641	+	RNA	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:43430641G>C	ENST00000446844.3	-	0	1026				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TATCGGTCCCGTATTTCACAT	0.522000													6	242					0	0	0.248553	0	0
GPR45	11250	broad.mit.edu	37	2	105859167	105859167	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:105859167C>T	ENST00000258456.1	+	1	968	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	284						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.S284S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCCCCACTCCGTCTACAGCC	0.587000													75	220					0	0	0.870114	0	0
ZNF443	10224	broad.mit.edu	37	19	12542085	12542085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:12542085T>A	ENST00000301547.5	-	4	1098	c.901A>T	c.(901-903)Aga>Tga	p.R301*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	301					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTGTGAGTTCTTTCATGTATT	0.408000													68	220					0	0	0.870114	0	0
DLGAP4	22839	broad.mit.edu	37	20	35154397	35154397	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:35154397C>A	ENST00000373913.3	+	12	3219	c.2739C>A	c.(2737-2739)ccC>ccA	p.P913P	RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.P913P|DLGAP4_ENST00000373907.2_Silent_p.P916P|DLGAP4_ENST00000340491.4_Silent_p.P377P|DLGAP4_ENST00000339266.5_Silent_p.P916P|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	916					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGGAGACCCCCGAGAAGAGGA	0.572000													27	85					3.57733e-08	4.18572e-08	0.740014	1	0
APOH	350	broad.mit.edu	37	17	64225441	64225441	+	Silent	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:64225441T>A	ENST00000205948.6	-	1	94	c.57A>T	c.(55-57)gcA>gcT	p.A19A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	19					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACTCCGTCCTGCAATAGCAA	0.418000													6	14					0	0	0.217242	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039836	17039836	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17039836G>A	ENST00000443236.1	-	24	3232	c.3201C>T	c.(3199-3201)ccC>ccT	p.P1067P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1020						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACTGGCCACGGGCTCTCCCA	0.572000													12	38					0	0	0.479597	0	0
AGMO	392636	broad.mit.edu	37	7	15430330	15430330	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:15430330T>C	ENST00000342526.3	-	8	957	c.788A>G	c.(787-789)cAt>cGt	p.H263R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	263					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATTAATGGGATGTGTTAAGCC	0.294000													35	153					0	0	0.819951	0	0
CSMD3	114788	broad.mit.edu	37	8	113293570	113293570	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:113293570C>A	ENST00000297405.5	-	59	9585	c.9341G>T	c.(9340-9342)tGt>tTt	p.C3114F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C2945F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C3044F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3074F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3114	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGTTACCACACTGCACAGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	46					5.03518e-11	6.43904e-11	0.557998	1	0
TNR	7143	broad.mit.edu	37	1	175348704	175348704	+	Silent	SNP	G	G	A	rs140708810		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:175348704G>A	ENST00000367674.1	-	9	2655	c.1947C>T	c.(1945-1947)acC>acT	p.T649T	TNR_ENST00000263525.2_Silent_p.T649T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	649	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGTGGCCCTGGTGGTTGGAC	0.532000													19	68					0	0	0.624587	0	0
OR6C76	390326	broad.mit.edu	37	12	55820376	55820376	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:55820376C>T	ENST00000328314.3	+	1	339	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTCCTGGCCTCTATGTCCT	0.413000													86	263					0	0	0.870114	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729136	3729136	+	Splice_Site	SNP	C	C	T	rs56234957	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:3729136C>T	ENST00000315677.3	-	7	2185	c.1591_splice	c.e7+1	p.T530_splice	DLGAP1_ENST00000581527.1_Splice_Site_p.T530_splice|DLGAP1_ENST00000581699.1_Splice_Site_p.T236_splice|DLGAP1_ENST00000400155.1_Splice_Site_p.T236_splice|DLGAP1_ENST00000515196.2_Splice_Site_p.T530_splice|DLGAP1_ENST00000534970.1_Splice_Site_p.T242_splice|DLGAP1_ENST00000400147.2_Splice_Site_p.T228_splice|DLGAP1_ENST00000400150.3_Splice_Site_p.T236_splice|DLGAP1_ENST00000400145.2_Splice_Site_p.T228_splice|DLGAP1_ENST00000400149.3_Splice_Site_p.T238_splice|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000539435.1_Splice_Site_p.T228_splice|DLGAP1_ENST00000584874.1_Splice_Site_p.T530_splice	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	530					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.T228T(1)|p.T530T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCACTCACCCGTGCTGCTCT	0.642000													3	37					0	0	0.115264	0	0
MDN1	23195	broad.mit.edu	37	6	90402372	90402372	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90402372C>A	ENST00000369393.3	-	63	10492	c.10377G>T	c.(10375-10377)ttG>ttT	p.L3459F	MDN1_ENST00000428876.1_Missense_Mutation_p.L3459F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3459					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCACCGAGCACAAAGTGTCTG	0.587000													39	156					1.04594e-18	1.51496e-18	0.819951	1	0
MDN1	23195	broad.mit.edu	37	6	90383950	90383950	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90383950G>A	ENST00000369393.3	-	79	13235	c.13120C>T	c.(13120-13122)Cgg>Tgg	p.R4374W	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4374W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4374					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTGTTTCCGCATCCGGCAA	0.463000													21	72					0	0	0.608945	0	0
YIPF7	285525	broad.mit.edu	37	4	44626780	44626780	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:44626780C>G	ENST00000332990.5	-	5	534	c.518G>C	c.(517-519)gGt>gCt	p.G173A		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	173						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						ATACACATAACCAAACTGAAC	0.478000													4	3					0	0	0.217242	0	0
SIGIRR	59307	broad.mit.edu	37	11	408879	408879	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:408879C>T	ENST00000431843.2	-	3	328	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Missense_Mutation_p.A8T|SIGIRR_ENST00000332725.3_Missense_Mutation_p.A8T|SIGIRR_ENST00000531205.1_Missense_Mutation_p.A8T|SIGIRR_ENST00000397632.3_Missense_Mutation_p.A8T	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	8					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGTCAGGGGCCCTATCACAG	0.617000													14	48					0	0	0.479597	0	0
SPSB1	80176	broad.mit.edu	37	1	9416393	9416393	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:9416393G>T	ENST00000328089.6	+	2	784	c.443G>T	c.(442-444)cGg>cTg	p.R148L	SPSB1_ENST00000377399.2_Missense_Mutation_p.R148L|SPSB1_ENST00000357898.3_Missense_Mutation_p.R148L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	148	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCGCAACCGGCTCTACCAC	0.602000													25	47					1.85244e-09	2.25972e-09	0.654019	1	0
UPP1	7378	broad.mit.edu	37	7	48141563	48141563	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:48141563C>T	ENST00000331803.4	+	6	928	c.305C>T	c.(304-306)cCg>cTg	p.P102L	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.P102L|UPP1_ENST00000395564.4_Missense_Mutation_p.P102L|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	102					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AAAGTAGGACCGGTGCTGTCT	0.572000													28	64					0	0	0.750413	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995643	140995643	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140995643C>A	ENST00000285879.4	+	4	2739	c.2453C>A	c.(2452-2454)cCc>cAc	p.P818H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	818							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTCCTTCCCCTCCTCCACT	0.552000										HNSCC(15;0.026)			106	124					1.52339e-35	2.51341e-35	0.870114	1	0
STAG1	10274	broad.mit.edu	37	3	136192475	136192475	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:136192475C>A	ENST00000383202.2	-	11	1287	c.1031G>T	c.(1030-1032)gGg>gTg	p.G344V	STAG1_ENST00000434713.2_Missense_Mutation_p.G118V|STAG1_ENST00000236698.5_Missense_Mutation_p.G344V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	344	SCD.				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCTGACTTCCCCTTGCTTCAG	0.348000													10	88					2.80697e-09	3.38807e-09	0.387290	1	0
TRIM39	56658	broad.mit.edu	37	6	30309588	30309588	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:30309588C>T	ENST00000376659.5	+	8	1617	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	TRIM39_ENST00000396551.3_Missense_Mutation_p.P340L|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.P252L|TRIM39_ENST00000376656.4_Missense_Mutation_p.P370L|TRIM39_ENST00000396547.1_Missense_Mutation_p.P370L|TRIM39_ENST00000396548.1_Missense_Mutation_p.P340L|TRIM39_ENST00000540416.1_Missense_Mutation_p.P340L	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CGGGATCTCCCTGACACACCA	0.572000													15	40					0	0	0.479597	0	0
SPATA18	132671	broad.mit.edu	37	4	52917908	52917908	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:52917908C>G	ENST00000295213.4	+	1	412	c.38C>G	c.(37-39)aCt>aGt	p.T13S	SPATA18_ENST00000419395.2_Missense_Mutation_p.T13S|SPATA18_ENST00000506829.1_3'UTR	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	13					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAAACGAAACTTTACGAACG	0.567000													40	236					0	0	0.840704	0	0
ZNF668	79759	broad.mit.edu	37	16	31072937	31072937	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:31072937C>A	ENST00000538906.1	-	3	2096	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	ZNF668_ENST00000539836.3_Missense_Mutation_p.V461L|ZNF668_ENST00000535577.1_Missense_Mutation_p.V438L|ZNF668_ENST00000417110.2_Missense_Mutation_p.T42K|ZNF668_ENST00000426488.2_Missense_Mutation_p.V461L|ZNF668_ENST00000394983.2_Missense_Mutation_p.V438L|ZNF668_ENST00000300849.4_Missense_Mutation_p.V438L	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V438M(1)|p.V461M(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCACCTGCCACGCCCACAGGC	0.716000													26	88					4.02929e-09	4.8549e-09	0.750413	1	0
GPR108	56927	broad.mit.edu	37	19	6734313	6734313	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:6734313T>C	ENST00000264080.7	-	5	406	c.380A>G	c.(379-381)cAg>cGg	p.Q127R	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	127						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CTTCCGCACCTGGACCCTGGG	0.637000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	0.435327	0	0
THEMIS	387357	broad.mit.edu	37	6	128134032	128134032	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:128134032G>A	ENST00000368250.1	-	5	2015	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	THEMIS_ENST00000537166.1_Missense_Mutation_p.P550L|THEMIS_ENST00000368248.2_Missense_Mutation_p.P585L|THEMIS_ENST00000543064.1_Missense_Mutation_p.P585L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	585	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTTACCTTGGGAGACTTGGG	0.463000													82	276					0	0	0.870114	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283742	40283742	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:40283742C>T	ENST00000325157.6	-	2	261	c.11G>A	c.(10-12)aGg>aAg	p.R4K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	4								p.R4K(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CACTTGTCTCCTGAACGCCAT	0.393000													19	62					0	0	0.592651	0	0
PIGA	5277	broad.mit.edu	37	X	15349561	15349561	+	Silent	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:15349561C>G	ENST00000333590.4	-	2	576	c.492G>C	c.(490-492)tcG>tcC	p.S164S	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	164					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTGTAAGCACCGAGCTGACAT	0.443000													24	24					0	0	0.639603	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:241094032C>A	ENST00000366565.1	-	6	751	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.E40*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E124*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E98*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E124*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000													72	222					4.49761e-31	7.31527e-31	0.870114	1	0
NFXL1	152518	broad.mit.edu	37	4	47877297	47877297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:47877297C>T	ENST00000507489.1	-	18	2269	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	NFXL1_ENST00000381538.3_Missense_Mutation_p.C698Y	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	698						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACAATGAAGGCATTCTGGGCC	0.428000													12	75					0	0	0.411799	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702310	8702310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:8702310C>A	ENST00000329805.4	-	1	357	c.129G>T	c.(127-129)ttG>ttT	p.L43F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	43						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGGGCGCGGCCAAGCCCAGCT	0.652000													18	40					1.67942e-08	1.98529e-08	0.539581	1	0
IL7R	3575	broad.mit.edu	37	5	35876247	35876247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:35876247C>T	ENST00000303115.3	+	8	1168	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	347					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGTGCAGAGCCCCAACTGCCC	0.502000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						17	52					0	0	0.520397	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780703	106780703	+	RNA	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106780703C>G	ENST00000390612.2	-	0	232																											GATCCAGCCCCACCAGTTACT	0.592000													36	74					0	0	0.804634	0	0
LRFN1	57622	broad.mit.edu	37	19	39798856	39798856	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:39798856C>A	ENST00000248668.4	-	2	1732	c.1733G>T	c.(1732-1734)cGg>cTg	p.R578L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	578						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGGCTGACCCGCGGGAGCGA	0.697000													6	18					0.00116845	0.00122544	0.217242	1	0
SP140L	93349	broad.mit.edu	37	2	231249970	231249970	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:231249970G>A	ENST00000243810.6	+	9	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S	SP140L_ENST00000415673.2_Silent_p.S245S|SP140L_ENST00000396563.4_Silent_p.S245S|SP140L_ENST00000444636.1_Silent_p.S245S			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	245						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGCTGGTCTCGAGTGAAAAGA	0.458000													3	55					0	0	0.150653	0	0
ZIC1	7545	broad.mit.edu	37	3	147131266	147131266	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147131266C>A	ENST00000282928.4	+	3	2001	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	424	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCTTATCGCCCTCCTCCTCCG	0.562000													25	163					4.72057e-08	5.50467e-08	0.667858	1	0
NID2	22795	broad.mit.edu	37	14	52520339	52520339	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:52520339A>G	ENST00000216286.5	-	5	1386	c.1387T>C	c.(1387-1389)Tat>Cat	p.Y463H	NID2_ENST00000541773.1_Missense_Mutation_p.Y410H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	463						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCACCTCATACGTCCCTCGA	0.478000													51	155					0	0	0.870114	0	0
DUXA	503835	broad.mit.edu	37	19	57666725	57666725	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57666725G>T	ENST00000554048.2	-	5	453	c.454C>A	c.(454-456)Cga>Aga	p.R152R		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTAGATCTTCGATTTTGGAAC	0.383000													20	47					1.56452e-12	2.05418e-12	0.557998	1	0
CTNNA2	1496	broad.mit.edu	37	2	80831210	80831210	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:80831210C>A	ENST00000466387.1	+	20	2925	c.2201C>A	c.(2200-2202)cCa>cAa	p.P734Q	CTNNA2_ENST00000361291.4_Missense_Mutation_p.P768Q|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000599412.1_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P734Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P734Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P734Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.P413Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P734Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	734					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGCAAAGGCCCATTGAAAAAT	0.408000													12	41					1.05317e-09	1.29853e-09	0.457914	1	0
FGF23	8074	broad.mit.edu	37	12	4479648	4479648	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:4479648C>A	ENST00000237837.1	-	3	762	c.617G>T	c.(616-618)tGt>tTt	p.C206F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	206					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCCTGTGAACAGGAGGCCGG	0.706000													14	33					0.000308642	0.000329218	0.479597	1	0
PRKCG	5582	broad.mit.edu	37	19	54403966	54403966	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:54403966G>T	ENST00000263431.3	+	14	1820	c.1538G>T	c.(1537-1539)cGc>cTc	p.R513L	PRKCG_ENST00000542049.1_Missense_Mutation_p.R400L|PRKCG_ENST00000540413.1_Missense_Mutation_p.R513L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	513	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACGACAACCCGCACCTTCTGC	0.567000													83	414					6.07207e-39	1.01152e-38	0.870114	1	0
NAA25	80018	broad.mit.edu	37	12	112491432	112491432	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:112491432A>G	ENST00000261745.4	-	15	1906	c.1658T>C	c.(1657-1659)cTa>cCa	p.L553P		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	553						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATACTGACCTAGAGATTCAGC	0.358000													9	32					0	0	0.335167	0	0
MUC5B	727897	broad.mit.edu	37	11	1255445	1255445	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:1255445C>A	ENST00000447027.1	+	20	2455	c.2397C>A	c.(2395-2397)gcC>gcA	p.A799A	MUC5B_ENST00000529681.1_Silent_p.A796A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	796					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTGCAGCCCCCATGGTGT	0.682000													3	6					0.00024832	0.000265286	0.150653	1	0
B3GNTL1	146712	broad.mit.edu	37	17	80972342	80972342	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:80972342C>A	ENST00000320865.3	-	5	409	c.396G>T	c.(394-396)caG>caT	p.Q132H	B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	132							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TCGACGGGTGCTGAACGGCAG	0.468000													10	56					1.58986e-06	1.77281e-06	0.361761	1	0
ZNF382	84911	broad.mit.edu	37	19	37118348	37118348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:37118348G>T	ENST00000435416.1	+	3	3041	c.1546G>T	c.(1546-1548)Gag>Tag	p.E516*	ZNF382_ENST00000439428.1_Nonsense_Mutation_p.E516*|ZNF382_ENST00000423582.1_Nonsense_Mutation_p.E468*|ZNF382_ENST00000292928.2_Nonsense_Mutation_p.E517*			Q96SR6	ZN382_HUMAN	zinc finger protein 382	517	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGCGAGAAACCATA	0.423000													19	52					1.01871e-10	1.28601e-10	0.575678	1	0
TRIM55	84675	broad.mit.edu	37	8	67039550	67039550	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:67039550C>G	ENST00000315962.4	+	1	420	c.47C>G	c.(46-48)aCc>aGc	p.T16S	TRIM55_ENST00000350034.4_Missense_Mutation_p.T16S|TRIM55_ENST00000276573.7_Missense_Mutation_p.T16S|TRIM55_ENST00000353317.5_Missense_Mutation_p.T16S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	16						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GAGCAGCAGACCATGGATAAC	0.498000													41	74					0	0	0.812448	0	0
PNN	5411	broad.mit.edu	37	14	39644596	39644596	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:39644596G>T	ENST00000216832.4	+	1	180	c.113_splice	c.e1+1	p.R38_splice	PNN_ENST00000556530.1_Splice_Site_p.R38_splice|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Splice_Site_p.R38_splice	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	38	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AATGACGTGAGGTAAGGGCCT	0.582000													6	19					3.59834e-05	3.89254e-05	0.217242	1	0
SLC14A1	6563	broad.mit.edu	37	18	43329784	43329784	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:43329784G>A	ENST00000589700.1	+	7	890	c.890G>A	c.(889-891)cGc>cAc	p.R297H	SLC14A1_ENST00000591541.1_Silent_p.T50T|SLC14A1_ENST00000321925.4_Silent_p.T346T|SLC14A1_ENST00000502059.2_Silent_p.T238T|SLC14A1_ENST00000535474.1_Silent_p.T214T|SLC14A1_ENST00000436407.3_Silent_p.T402T|SLC14A1_ENST00000402943.2_Silent_p.T241T|SLC14A1_ENST00000415427.3_Silent_p.T402T|SLC14A1_ENST00000586142.1_Silent_p.T346T			Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTTGGCCACGCTATTGTTCC	0.478000													48	132					0	0	0.870114	0	0
HAP1	9001	broad.mit.edu	37	17	39881020	39881020	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:39881020T>C	ENST00000393939.2	-	10	1727	c.1718A>G	c.(1717-1719)aAa>aGa	p.K573R	HAP1_ENST00000347901.4_Missense_Mutation_p.K598R|HAP1_ENST00000341193.5_Missense_Mutation_p.K581R|HAP1_ENST00000310778.5_Missense_Mutation_p.K650R|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	650	Glu-rich.			P -> L (in Ref. 3; BAB13952).	brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCACTCACCTTTCTGGAGCAT	0.602000													57	188					0	0	0.870114	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919978	51919978	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:51919978A>G	ENST00000353836.5	-	3	869	c.648T>C	c.(646-648)caT>caC	p.H216H	SIGLEC10_ENST00000339313.5_Silent_p.H216H|SIGLEC10_ENST00000436984.2_Silent_p.H168H|SIGLEC10_ENST00000442846.3_Silent_p.H158H|SIGLEC10_ENST00000441969.3_Silent_p.H158H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000356298.5_Silent_p.H216H|SIGLEC10_ENST00000525998.1_Silent_p.H216H|SIGLEC10_ENST00000439889.2_Silent_p.H158H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	216	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGAAGTCCACATGGCAGGTGA	0.632000													12	41					0	0	0.435327	0	0
NOSIP	51070	broad.mit.edu	37	19	50063282	50063282	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:50063282C>A	ENST00000391853.3	-	4	236	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	NOSIP_ENST00000596358.1_Missense_Mutation_p.G29W|NOSIP_ENST00000339093.3_Missense_Mutation_p.G29W	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	29					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGGTCCCATAGCCCGAG	0.607000													8	26					0.000442599	0.000470647	0.335167	1	0
RBPJL	11317	broad.mit.edu	37	20	43942234	43942234	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:43942234C>A	ENST00000343694.3	+	7	818	c.746C>A	c.(745-747)aCg>aAg	p.T249K	RBPJL_ENST00000372743.1_Missense_Mutation_p.T249K|RBPJL_ENST00000372741.3_Missense_Mutation_p.T249K	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	249					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCTGCCTTCACGCTCCACCTG	0.562000													11	19					2.80697e-09	3.38807e-09	0.387290	1	0
FCRL4	83417	broad.mit.edu	37	1	157557067	157557067	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157557067C>A	ENST00000271532.1	-	5	981	c.847_splice	c.e5+1	p.Q282_splice	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	282	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AACACTCACGCTGCACATGGA	0.532000													67	227					1.31726e-23	2.03658e-23	0.870114	1	0
ZNF37A	7587	broad.mit.edu	37	10	38406775	38406775	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:38406775A>G	ENST00000351773.3	+	8	1526	c.696A>G	c.(694-696)ccA>ccG	p.P232P	ZNF37A_ENST00000361085.4_Silent_p.P232P	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	232						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ATCTCACTCCAATTCAGAGAA	0.338000													10	45					0	0	0.335167	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159636	242159636	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:242159636G>A	ENST00000357246.3	-	4	337	c.273C>T	c.(271-273)aaC>aaT	p.N91N		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	91					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCAGGCTCTTGTTGTTCACCA	0.572000													41	127					0	0	0.840704	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386506	56386506	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:56386506C>T	ENST00000355701.3	-	22	4997	c.4127G>A	c.(4126-4128)aGa>aAa	p.R1376K	BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1376						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCTTCGGGGCTG	0.632000													47	121					0	0	0.870114	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84610013	84610013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:84610013C>G	ENST00000344803.2	+	4	4675	c.4628C>G	c.(4627-4629)cCa>cGa	p.P1543R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCAGCCGTCCCAACCAGTGCT	0.527000													5	26					0	0	0.184627	0	0
DNAJC10	54431	broad.mit.edu	37	2	183594599	183594599	+	Silent	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:183594599A>C	ENST00000264065.6	+	8	1073	c.658A>C	c.(658-660)Aga>Cga	p.R220R	DNAJC10_ENST00000537515.1_Silent_p.R220R	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	220	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCATGGAGACAGATCAAAGGA	0.308000													26	106					0	0	0.769981	0	0
MDN1	23195	broad.mit.edu	37	6	90402456	90402456	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:90402456C>T	ENST00000369393.3	-	63	10408	c.10293G>A	c.(10291-10293)agG>agA	p.R3431R	MDN1_ENST00000428876.1_Silent_p.R3431R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3431					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGTCCCCAGCCTGTCTGCAC	0.582000													29	71					0	0	0.779181	0	0
OR13C5	138799	broad.mit.edu	37	9	107360955	107360955	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:107360955A>C	ENST00000374779.2	-	1	833	c.740T>G	c.(739-741)gTg>gGg	p.V247G		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TGTTATCACCACAGTCAGACG	0.423000													23	77					0	0	0.608945	0	0
PRR11	55771	broad.mit.edu	37	17	57270975	57270975	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:57270975C>A	ENST00000262293.4	+	5	837	c.525C>A	c.(523-525)ccC>ccA	p.P175P		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	175	Pro-rich.									breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGCTTCCTCCCACACTGCCAC	0.552000													17	32					2.23348e-06	2.47845e-06	0.500413	1	0
HK3	3101	broad.mit.edu	37	5	176309035	176309035	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:176309035C>T	ENST00000292432.5	-	16	2238	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	716	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAAAGGCGCCCCACTCCAT	0.632000													23	56					0	0	0.624587	0	0
PARP9	83666	broad.mit.edu	37	3	122247277	122247277	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:122247277T>C	ENST00000360356.2	-	11	2726	c.2499A>G	c.(2497-2499)tcA>tcG	p.S833S	PARP9_ENST00000477522.2_Silent_p.S798S|PARP9_ENST00000492382.1_Silent_p.S378S|PARP9_ENST00000471785.1_Silent_p.S798S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	833	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCATTGGTCCTGATGAGTAAT	0.453000													35	136					0	0	0.769981	0	0
TTN	7273	broad.mit.edu	37	2	179611834	179611834	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179611834G>T	ENST00000360870.5	-	46	15515	c.15293C>A	c.(15292-15294)cCc>cAc	p.P5098H	TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1206	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTCCTGGGGGTGTGGAGTA	0.522000													41	147					6.2361e-21	9.36777e-21	0.834066	1	0
NCBP2L	392517	broad.mit.edu	37	X	107037685	107037685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:107037685T>C	ENST00000372379.1	+	1	235	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R	RP5-820B18.3_ENST00000509000.1_RNA					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GAAAACAGCATGTGGTTTTTG	0.378000													36	28					0	0	0.788014	0	0
ATP13A3	79572	broad.mit.edu	37	3	194149640	194149640	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:194149640T>G	ENST00000439040.1	-	28	3672	c.2881A>C	c.(2881-2883)Agt>Cgt	p.S961R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S961R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	961					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCTAGGTTACTTAAGATCTAC	0.294000													16	66					0	0	0.500413	0	0
TRHDE	29953	broad.mit.edu	37	12	72866900	72866900	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:72866900A>T	ENST00000261180.4	+	5	1485	c.1389A>T	c.(1387-1389)gaA>gaT	p.E463D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	463					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGCTGAAGGAAGGGTTTGCTC	0.408000													41	151					0	0	0.870114	0	0
CEP170	9859	broad.mit.edu	37	1	243349671	243349671	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:243349671T>A	ENST00000366542.1	-	9	1213	c.1162A>T	c.(1162-1164)Agg>Tgg	p.R388W	CEP170_ENST00000366544.1_Missense_Mutation_p.R388W|CEP170_ENST00000366543.1_Missense_Mutation_p.R388W	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	388						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTACAGCGCCTGTGAGCCCCA	0.438000													59	177					0	0	0.870114	0	0
TEKT1	83659	broad.mit.edu	37	17	6718618	6718618	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:6718618G>T	ENST00000338694.2	-	5	622	c.493C>A	c.(493-495)Cgc>Agc	p.R165S	TEKT1_ENST00000535086.1_Missense_Mutation_p.R19S	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	165					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTGGCAGAGCGGTTCATCCTG	0.498000													34	72					8.4185e-14	1.13567e-13	0.760397	1	0
SLC36A2	153201	broad.mit.edu	37	5	150712872	150712872	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:150712872G>A	ENST00000335244.4	-	7	885	c.756C>T	c.(754-756)gaC>gaT	p.D252D	SLC36A2_ENST00000521967.1_Silent_p.D252D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	252					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCGGCTGGGGTCTGGGATTT	0.438000													25	56					0	0	0.681144	0	0
SCN2A	6326	broad.mit.edu	37	2	166187857	166187857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166187857C>G	ENST00000375437.2	+	14	2457	c.2167C>G	c.(2167-2169)Cag>Gag	p.Q723E	SCN2A_ENST00000283256.6_Missense_Mutation_p.Q723E|SCN2A_ENST00000375427.2_Missense_Mutation_p.Q723E|SCN2A_ENST00000357398.3_Missense_Mutation_p.Q723E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	723					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGAATCCAGACAGAAATGCCC	0.338000													25	92					0	0	0.639603	0	0
SOX4	6659	broad.mit.edu	37	6	21596066	21596066	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:21596066T>G	ENST00000244745.1	+	1	2095	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	SOX4_ENST00000543472.1_Missense_Mutation_p.F434C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	434					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCTGGATTTTAACTTCGAG	0.607000													10	26					0	0	0.361761	0	0
MROH2B	133558	broad.mit.edu	37	5	41000408	41000408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:41000408G>A	ENST00000399564.4	-	39	4846	c.4396C>T	c.(4396-4398)Cag>Tag	p.Q1466*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q1021*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TAGAGCTCCTGGAGGCCCAAA	0.488000													13	56					0	0	0.435327	0	0
DACT1	51339	broad.mit.edu	37	14	59112685	59112685	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:59112685G>C	ENST00000395153.3	+	4	1380	c.1233G>C	c.(1231-1233)caG>caC	p.Q411H	DACT1_ENST00000541264.2_Missense_Mutation_p.Q167H|DACT1_ENST00000556859.1_Missense_Mutation_p.Q167H|DACT1_ENST00000335867.4_Missense_Mutation_p.Q448H|DACT1_ENST00000395151.3_Missense_Mutation_p.Q167H	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	448					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGACCTTCAGAGTAAGCACC	0.602000													15	43					0	0	0.539581	0	0
DPPA4	55211	broad.mit.edu	37	3	109050622	109050622	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:109050622C>T	ENST00000335658.6	-	4	403	c.349G>A	c.(349-351)Gca>Aca	p.A117T	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	117						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CGCTTATATGCATCCAATTTC	0.448000													30	158					0	0	0.750413	0	0
RBBP6	5930	broad.mit.edu	37	16	24581745	24581745	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:24581745A>C	ENST00000319715.4	+	17	4166	c.3734A>C	c.(3733-3735)gAa>gCa	p.E1245A	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.E1211A	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1245					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTAAACAAGAAAAAGTCAAA	0.408000													16	56					0	0	0.557998	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789565	6789565	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:6789565C>A	ENST00000338569.2	-	1	721	c.624G>T	c.(622-624)ttG>ttT	p.L208F		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAATGGGGAGCAAGAGGAAAG	0.502000													10	34					0.00829132	0.00856521	0.361761	1	0
LRP2	4036	broad.mit.edu	37	2	170136935	170136935	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:170136935A>G	ENST00000263816.3	-	11	1551	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	LRP2_ENST00000443831.1_Silent_p.N422N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	422					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACTCCACGATTCTGAGACT	0.448000													17	75					0	0	0.557998	0	0
MUC16	94025	broad.mit.edu	37	19	9085606	9085606	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:9085606G>A	ENST00000397910.4	-	1	6412	c.6209C>T	c.(6208-6210)tCt>tTt	p.S2070F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2070	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGCCTCAGATAAACTAGT	0.473000													67	167					0	0	0.870114	0	0
BAI3	577	broad.mit.edu	37	6	69703837	69703837	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:69703837G>T	ENST00000370598.1	+	11	2733	c.1912G>T	c.(1912-1914)Gca>Tca	p.A638S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	638					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTACATCCCTGCATCTGATGG	0.453000													24	68					4.4004e-07	5.00409e-07	0.654019	1	0
FCRL1	115350	broad.mit.edu	37	1	157773822	157773822	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157773822C>A	ENST00000358292.3	-	3	183	c.132G>T	c.(130-132)caG>caT	p.Q44H	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.Q44H|FCRL1_ENST00000368176.3_Missense_Mutation_p.Q44H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	44	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CATCTGAACTCTGTAGAAAGG	0.562000													38	149					2.32173e-10	2.91488e-10	0.804634	1	0
SAMD3	154075	broad.mit.edu	37	6	130535556	130535556	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130535556C>G	ENST00000532763.1	-	3	324	c.195G>C	c.(193-195)caG>caC	p.Q65H	SAMD3_ENST00000457563.2_Missense_Mutation_p.Q89H|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000368134.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q65H|SAMD3_ENST00000324172.6_Missense_Mutation_p.Q65H			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	65	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTTGAGTGTTCTGCTTGTATT	0.448000													65	202					0	0	0.870114	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58287338	58287338	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:58287338C>A	ENST00000249750.4	-	5	1261		c.e5-1		ALDH1A2_ENST00000559517.1_Splice_Site|ALDH1A2_ENST00000558231.1_Splice_Site|ALDH1A2_ENST00000347587.3_Splice_Site|ALDH1A2_ENST00000537372.1_Splice_Site	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2						negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAGTCTCCATCTGAAAGAAAA	0.358000													37	108					8.73648e-17	1.22169e-16	0.796494	1	0
TRIM24	8805	broad.mit.edu	37	7	138261116	138261116	+	Splice_Site	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:138261116A>T	ENST00000343526.4	+	13	2229		c.e13-1		TRIM24_ENST00000415680.2_Splice_Site			O15164	TIF1A_HUMAN	tripartite motif containing 24						cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CCCCCTCCTCAGGACCTGTTA	0.423000													25	130					0	0	0.717897	0	0
OXTR	5021	broad.mit.edu	37	3	8809254	8809254	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:8809254G>A	ENST00000316793.3	-	3	1244	c.620C>T	c.(619-621)gCt>gTt	p.A207V	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	207					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GATGTAGACAGCTAGCGTGAT	0.612000													17	28					0	0	0.557998	0	0
TBX5	6910	broad.mit.edu	37	12	114793739	114793739	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:114793739G>T	ENST00000310346.4	-	9	1821	c.1155C>A	c.(1153-1155)ccC>ccA	p.P385P	TBX5_ENST00000405440.2_Silent_p.P385P|TBX5_ENST00000349716.5_Silent_p.P335P	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	385					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCTCGCTGGGGGGCGCAGAGC	0.632000													10	86					7.48243e-07	8.42539e-07	0.335167	1	0
MUC17	140453	broad.mit.edu	37	7	100675651	100675651	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:100675651G>T	ENST00000306151.4	+	3	1018	c.954G>T	c.(952-954)acG>acT	p.T318T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	318	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T318T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTACAACGGCTGAAGGCA	0.502000													73	354					9.55688e-25	1.49435e-24	0.870114	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33577237	33577237	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:33577237C>G	ENST00000504830.1	-	19	3229	c.2894G>C	c.(2893-2895)cGg>cCg	p.R965P	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R880P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	965	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R965Q(1)		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						ACTGCGAATCCGCACTCCACC	0.493000										HNSCC(64;0.19)			30	118					0	0	0.717897	0	0
CUX1	1523	broad.mit.edu	37	7	101892287	101892287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:101892287G>A	ENST00000360264.3	+	24	4536	c.4516G>A	c.(4516-4518)Gcc>Acc	p.A1506T	CUX1_ENST00000549414.2_Missense_Mutation_p.A1473T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A1393T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A1495T|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A1337T|CUX1_ENST00000550008.2_Missense_Mutation_p.A1439T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1495					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGAAGGCCGCCAGCCGGGA	0.726000													6	9					0	0	0.278610	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717845	142717845	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:142717845G>T	ENST00000381779.4	-	2	1305	c.1080C>A	c.(1078-1080)aaC>aaA	p.N360K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.N360K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N360K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	360	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGCAGTTCACACTTA	0.458000													71	67					1.34568e-36	2.2309e-36	0.870114	1	0
RBMS1	5937	broad.mit.edu	37	2	161223858	161223858	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:161223858G>A	ENST00000348849.3	-	2	550	c.120C>T	c.(118-120)agC>agT	p.S40S	RBMS1_ENST00000409972.1_Silent_p.S7S|RBMS1_ENST00000392753.3_Silent_p.S40S|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.S7S|RBMS1_ENST00000409075.1_Silent_p.S7S	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	40					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								tgctggtggtgctgGGACTGG	0.537000													31	74					0	0	0.750413	0	0
TPCN2	219931	broad.mit.edu	37	11	68830381	68830381	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:68830381C>A	ENST00000294309.3	+	6	677	c.576C>A	c.(574-576)ccC>ccA	p.P192P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P192P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	192					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCTCCGTCCCTTCTTCCTGC	0.582000													56	162					6.75472e-32	1.10649e-31	0.870114	1	0
SNPH	9751	broad.mit.edu	37	20	1286353	1286353	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:1286353C>A	ENST00000381867.1	+	7	1914	c.1272C>A	c.(1270-1272)acC>acA	p.T424T	SNPH_ENST00000381873.3_Silent_p.T380T			O15079	SNPH_HUMAN	syntaphilin	380					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCCCATCACCCGTGGACCCA	0.672000													13	52					0.00136819	0.00143275	0.411799	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103418843	103418843	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:103418843G>C	ENST00000361246.2	-	24	3452	c.3164C>G	c.(3163-3165)gCc>gGc	p.A1055G		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1055					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACCCTCGCAGGCGTAGCCCTG	0.637000													3	27					0	0	0.115264	0	0
ADCY2	108	broad.mit.edu	37	5	7709444	7709444	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:7709444G>T	ENST00000338316.4	+	10	1611	c.1522G>T	c.(1522-1524)Gca>Tca	p.A508S	ADCY2_ENST00000537121.1_Missense_Mutation_p.A328S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	508					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CAAGCCCTTTGCACACCTACA	0.602000													8	40					5.18039e-06	5.73008e-06	0.278610	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30700639	30700639	+	Splice_Site	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:30700639G>C	ENST00000403477.3	-	2	230	c.209_splice	c.e2-1	p.P71_splice	TBC1D10A_ENST00000490449.1_Intron|TBC1D10A_ENST00000215790.7_Intron|TBC1D10A_ENST00000403362.1_Intron	NM_001204240.1	NP_001191169.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	70						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGAGGGCAGGGCCTGTGAGAG	0.602000													8	24					0	0	0.278610	0	0
INSR	3643	broad.mit.edu	37	19	7120658	7120658	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:7120658C>A	ENST00000341500.5	-	19	3635	c.3596G>T	c.(3595-3597)gGg>gTg	p.G1199V	INSR_ENST00000302850.5_Missense_Mutation_p.G1211V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1211	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGAAGACCCCATCCTTCAG	0.552000													14	51					0.00244969	0.0025575	0.457914	1	0
DNAH5	1767	broad.mit.edu	37	5	13692194	13692194	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:13692194G>T	ENST00000265104.4	-	79	13878	c.13774C>A	c.(13774-13776)Cga>Aga	p.R4592R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4592*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTCCGTTCGAACTGGCTTC	0.468000									Kartagener syndrome				15	89					6.31663e-08	7.31623e-08	0.479597	1	0
OR5M8	219484	broad.mit.edu	37	11	56258070	56258070	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56258070G>A	ENST00000327216.2	-	1	801	c.777C>T	c.(775-777)ctC>ctT	p.L259L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGGGGGTCTGAGATACATGA	0.413000													34	59					0	0	0.788014	0	0
PPP1R11	6992	broad.mit.edu	37	6	30035206	30035206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:30035206G>A	ENST00000376772.3	+	1	342	c.19G>A	c.(19-21)Ggg>Agg	p.G7R	PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	7						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						GGCAGGGGCTGGGCTGAGCGA	0.612000													27	100					0	0	0.729181	0	0
CXorf22	170063	broad.mit.edu	37	X	35989850	35989850	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:35989850G>T	ENST00000297866.5	+	12	2184	c.2118G>T	c.(2116-2118)agG>agT	p.R706S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAACCACCAGGGGTATAGCAT	0.418000													16	32					0.00316338	0.00329758	0.479597	1	0
ZIC4	84107	broad.mit.edu	37	3	147114163	147114163	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147114163G>T	ENST00000383075.3	-	3	676	c.164C>A	c.(163-165)cCc>cAc	p.P55H	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.P55H|ZIC4_ENST00000425731.3_Missense_Mutation_p.P93H|ZIC4_ENST00000473123.1_Missense_Mutation_p.P55H|ZIC4_ENST00000525172.2_Missense_Mutation_p.P105H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	55						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGGACGGCTGGGGGAGGCCTG	0.716000													10	38					1.58986e-06	1.77281e-06	0.361761	1	0
FBN1	2200	broad.mit.edu	37	15	48714173	48714173	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:48714173T>A	ENST00000316623.5	-	61	8001	c.7546A>T	c.(7546-7548)Acc>Tcc	p.T2516S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2516	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGTGTTGGGTAAATCCGGGA	0.433000													14	47					0	0	0.457914	0	0
RGS6	9628	broad.mit.edu	37	14	72961932	72961932	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:72961932G>T	ENST00000553530.1	+	13	1134	c.927G>T	c.(925-927)tgG>tgT	p.W309C	RGS6_ENST00000406236.4_Missense_Mutation_p.W309C|RGS6_ENST00000553525.1_Missense_Mutation_p.W309C|RGS6_ENST00000355512.6_Missense_Mutation_p.W309C|RGS6_ENST00000407322.4_Missense_Mutation_p.W309C|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000555571.1_Missense_Mutation_p.W309C|RGS6_ENST00000402788.2_Missense_Mutation_p.W309C|RGS6_ENST00000556437.1_Missense_Mutation_p.W309C|RGS6_ENST00000554782.1_Missense_Mutation_p.W170C|RGS6_ENST00000404301.2_Missense_Mutation_p.W309C|RGS6_ENST00000434263.2_Missense_Mutation_p.W240C	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	309	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAACCCTTGGATCAGCGATG	0.433000													81	201					2.61895e-37	4.35227e-37	0.870114	1	0
OR5M3	219482	broad.mit.edu	37	11	56237592	56237592	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56237592G>T	ENST00000312240.2	-	1	422	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATAAAGCAGAGGATTCCCA	0.393000													35	114					6.33695e-27	1.00457e-26	0.834066	1	0
TTC6	319089	broad.mit.edu	37	14	38281594	38281594	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:38281594G>A	ENST00000553443.1	+	25	4645	c.4645G>A	c.(4645-4647)Gga>Aga	p.G1549R	TTC6_ENST00000267368.7_Missense_Mutation_p.G183R|TTC6_ENST00000476979.1_Missense_Mutation_p.G183R|TTC6_ENST00000382320.3_Missense_Mutation_p.G263R					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		CCTTAATCGTGGACTCATCTA	0.378000													25	106					0	0	0.654019	0	0
SARDH	1757	broad.mit.edu	37	9	136599210	136599210	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:136599210G>C	ENST00000371872.4	-	2	343	c.86C>G	c.(85-87)tCc>tGc	p.S29C	SARDH_ENST00000439388.1_Missense_Mutation_p.S29C|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Missense_Mutation_p.S29C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	29					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCTGCGCTGGACAGGTTGCA	0.697000													8	35					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179611115	179611115	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179611115G>T	ENST00000360870.5	-	46	16234	c.16012C>A	c.(16012-16014)Cct>Act	p.P5338T	TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATGGTCAGGAGTAAATTCG	0.348000													21	89					1.01871e-10	1.28601e-10	0.575678	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33534996	33534996	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:33534996G>C	ENST00000504830.1	-	23	4883	c.4548C>G	c.(4546-4548)caC>caG	p.H1516Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1431Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1516	TSP type-1 8.				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						GTCTGGGTTTGTGATCACATA	0.493000										HNSCC(64;0.19)			35	112					0	0	0.796494	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324118	25324118	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:25324118G>T	ENST00000549804.2	+	0	1353																											GGGCTCCTTTGGGTGCCGGTG	0.483000													4	26					0.00909568	0.00932612	0.150653	1	0
DPY19L3	147991	broad.mit.edu	37	19	32899172	32899172	+	Missense_Mutation	SNP	C	C	T	rs143875213		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:32899172C>T	ENST00000342179.5	+	2	228	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R5W|DPY19L3_ENST00000587077.1_Missense_Mutation_p.R5W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R5W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	5						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GATGTCCATCCGGCAAAGAAG	0.423000													15	56					0	0	0.479597	0	0
PHOX2A	401	broad.mit.edu	37	11	71950813	71950813	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:71950813G>T	ENST00000298231.5	-	3	1006	c.835C>A	c.(835-837)Ctg>Atg	p.L279M		NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	279					noradrenergic neuron differentiation|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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTGGTCTTCAGGGCGGGGCCG	0.692000													4	4					0.000602214	0.000638403	0.184627	1	0
OR5H15	403274	broad.mit.edu	37	3	97887742	97887742	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:97887742G>C	ENST00000356526.2	+	1	199	c.199G>C	c.(199-201)Gct>Cct	p.A67P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGGAATTTAGCTTTTGTGGA	0.403000													64	247					0	0	0.870114	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619832	77619832	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:77619832G>A	ENST00000521891.2	+	3	3090	c.2642G>A	c.(2641-2643)gGt>gAt	p.G881D	ZFHX4_ENST00000455469.2_Intron|ZFHX4_ENST00000050961.6_Intron|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	863						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTAATGGGTGATGACCTG	0.448000										HNSCC(33;0.089)			11	20					0	0	0.361761	0	0
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:170871076G>A	ENST00000392092.2	+	3	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	84	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q84Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602000													3	0					0	0	0.115264	0	0
VPS4B	9525	broad.mit.edu	37	18	61066522	61066522	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:61066522C>T	ENST00000238497.5	-	8	1028	c.825G>A	c.(823-825)ctG>ctA	p.L275L	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	275					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTAGCTCCCAGAACCAAAA	0.348000													43	100					0	0	0.870114	0	0
DNAH3	55567	broad.mit.edu	37	16	21117970	21117970	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:21117970C>T	ENST00000261383.3	-	15	2124	c.2125G>A	c.(2125-2127)Gca>Aca	p.A709T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A709T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	709	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTTGTCTGCGATGTGGCTG	0.413000													17	75					0	0	0.557998	0	0
F5	2153	broad.mit.edu	37	1	169526028	169526028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:169526028G>A	ENST00000367796.3	-	6	1009	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	F5_ENST00000367797.3_Missense_Mutation_p.H270Y|F5_ENST00000546081.1_Missense_Mutation_p.H133Y			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	270	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCGTTGAAATGAATGGAGAAT	0.507000													16	64					0	0	0.520397	0	0
RBP4	5950	broad.mit.edu	37	10	95360467	95360467	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:95360467C>A	ENST00000371467.1	-	3	524	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	RBP4_ENST00000371464.3_Missense_Mutation_p.G69C|RBP4_ENST00000371469.2_Missense_Mutation_p.G67C|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	69					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTCATCTGGCCGGTCTCGTCC	0.647000													9	10					5.4927e-09	6.56073e-09	0.307466	1	0
CACNA1E	777	broad.mit.edu	37	1	181690998	181690998	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:181690998C>A	ENST00000526775.1	+	16	2226	c.2061C>A	c.(2059-2061)acC>acA	p.T687T	CACNA1E_ENST00000357570.5_Silent_p.T638T|CACNA1E_ENST00000367567.4_Silent_p.T294T|CACNA1E_ENST00000358338.5_Silent_p.T638T|CACNA1E_ENST00000367570.1_Silent_p.T687T|CACNA1E_ENST00000360108.3_Silent_p.T687T|CACNA1E_ENST00000367573.2_Silent_p.T687T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	687					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGCTCACCTTGTTTGGCA	0.537000													41	139					2.26627e-22	3.44955e-22	0.834066	1	0
SCN11A	11280	broad.mit.edu	37	3	38921582	38921582	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:38921582G>T	ENST00000450244.1	-	19	3450	c.3252C>A	c.(3250-3252)ccC>ccA	p.P1084P	SCN11A_ENST00000444237.2_Silent_p.P1084P|SCN11A_ENST00000456224.3_Silent_p.P1046P|SCN11A_ENST00000302328.3_Silent_p.P1084P			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1084					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1084P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTGGATTTTGGGTTGGTTCT	0.338000													13	32					1.36491e-13	1.83052e-13	0.435327	1	0
TRAK1	22906	broad.mit.edu	37	3	42132991	42132991	+	Silent	SNP	C	C	G	rs144753843	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:42132991C>G	ENST00000327628.5	+	1	430	c.30C>G	c.(28-30)ccC>ccG	p.P10P	TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	10					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCGGGCAGCCCGTCAGGGCTC	0.537000													8	40					0	0	0.307466	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383495	118383495	+	RNA	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:118383495A>T	ENST00000537242.1	+	0	115				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCTTTTCTGATGAAAAACCA	0.463000													23	39					0	0	0.639603	0	0
PEG3	5178	broad.mit.edu	37	19	57325540	57325540	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57325540C>G	ENST00000326441.9	-	10	4633	c.4270G>C	c.(4270-4272)Ggg>Cgg	p.G1424R	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1424R|PEG3_ENST00000598410.1_Missense_Mutation_p.G1300R|PEG3_ENST00000593695.1_Missense_Mutation_p.G1298R|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1424	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATCTGGCCCTTCAGCCTCT	0.607000													18	72					0	0	0.750413	0	0
DLX5	1749	broad.mit.edu	37	7	96650324	96650324	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:96650324G>A	ENST00000222598.4	-	3	1067	c.594C>T	c.(592-594)aaC>aaT	p.N198N	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	198					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCATCTCCCCGTTTTTCATGA	0.572000													17	94					0	0	0.557998	0	0
ZNF609	23060	broad.mit.edu	37	15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507000													53	146					0	0	0.870114	0	0
COL6A3	1293	broad.mit.edu	37	2	238296331	238296331	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:238296331G>T	ENST00000295550.4	-	4	1658	c.1206C>A	c.(1204-1206)gtC>gtA	p.V402V	COL6A3_ENST00000346358.4_Silent_p.V402V|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000392004.3_Silent_p.V196V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Silent_p.V196V|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Silent_p.V196V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	402	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAATTCCGGGACAGTAAACA	0.542000													4	21					0.00909568	0.00932612	0.150653	1	0
LOC101929735	101929735	broad.mit.edu	37	14	22925652	22925652	+	RNA	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:22925652G>A	ENST00000514473.2	-	0	225																											TAGGTAGCAAGGTTTTTCGTA	0.458000													62	138					0	0	0.870114	0	0
IRX5	10265	broad.mit.edu	37	16	54965210	54965210	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:54965210G>A	ENST00000394636.4	+	1	437	c.100G>A	c.(100-102)Gat>Aat	p.D34N	IRX5_ENST00000320990.5_Missense_Mutation_p.D34N|IRX5_ENST00000560154.1_Missense_Mutation_p.D34N			P78411	IRX5_HUMAN	iroquois homeobox 5	34					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCCCCGCACGGATGAGCTCGG	0.672000													11	22					0	0	0.387290	0	0
GTF3C1	2975	broad.mit.edu	37	16	27556684	27556684	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:27556684T>C	ENST00000356183.4	-	2	397	c.382A>G	c.(382-384)Aga>Gga	p.R128G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R128G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	128						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GACTTGGTTCTGATGTCATTG	0.473000													66	179					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	145049407	145049407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:145049407C>T	ENST00000436759.2	-	2	168	c.131G>A	c.(130-132)gGt>gAt	p.G44D	PLEC_ENST00000527096.1_Missense_Mutation_p.G44D	NM_000445.3	NP_000436.2	Q15149	PLEC_HUMAN	plectin	147	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCAGCGCCACCCCCGCTGCG	0.657000											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	50					0	0	0.693898	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181115	140181115	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140181115C>A	ENST00000522353.2	+	1	333	c.333C>A	c.(331-333)gaC>gaA	p.D111E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D111E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.D111E(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCGTGGACAGGCCGCTGC	0.507000													55	115					1.11015e-26	1.75582e-26	0.870114	1	0
COL3A1	1281	broad.mit.edu	37	2	189870076	189870076	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:189870076G>T	ENST00000304636.3	+	41	3102	c.2931_splice	c.e41-1	p.G978_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	978	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTGTATACAGGGTGAAAGTGG	0.413000													32	150					1.45844e-13	1.95215e-13	0.769981	1	0
CFHR4	10877	broad.mit.edu	37	1	196871597	196871597	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:196871597T>C	ENST00000367416.2	+	2	242	c.105T>C	c.(103-105)taT>taC	p.Y35Y	CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Silent_p.Y36Y	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTCTATATTATAAGAGTTTGC	0.318000													71	176					0	0	0.870114	0	0
CSHL1	1444	broad.mit.edu	37	17	61987405	61987405	+	Silent	SNP	A	A	T	rs2006122	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:61987405A>T	ENST00000450719.3	-	3	543	c.306T>A	c.(304-306)ccT>ccA	p.P102P	CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Silent_p.P113P|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ATGAAGAATAAGGTGAGTTCT	0.547000													5	132					0	0	0.184627	0	0
VSX1	30813	broad.mit.edu	37	20	25060074	25060074	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:25060074G>A	ENST00000376709.4	-	2	764	c.501C>T	c.(499-501)caC>caT	p.H167H	VSX1_ENST00000429762.3_Silent_p.H167H|VSX1_ENST00000424574.1_Silent_p.H167H|VSX1_ENST00000451258.1_Silent_p.H167H|VSX1_ENST00000444511.2_Silent_p.H167H|VSX1_ENST00000376707.3_Silent_p.H167H	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	167					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						CCCTATACCTGTGCCGCCGCT	0.557000													13	29					0	0	0.411799	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634252	180634252	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:180634252G>C	ENST00000410066.1	-	3	834	c.231C>G	c.(229-231)agC>agG	p.S77R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	77						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGCTGCTGGGGCTGGCCTGGG	0.607000													9	61					0	0	0.387290	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689696	150689696	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150689696C>A	ENST00000368993.2	-	3	201	c.96G>T	c.(94-96)agG>agT	p.R32S	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R32S|HORMAD1_ENST00000361824.2_Missense_Mutation_p.R32S|HORMAD1_ENST00000368995.4_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	32	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTAGAAGCCTCTTCACTA	0.348000													43	146					7.70917e-36	1.27498e-35	0.870114	1	0
ATRAID	51374	broad.mit.edu	37	2	27438549	27438549	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:27438549A>G	ENST00000380171.3	+	5	757	c.580A>G	c.(580-582)Act>Gct	p.T194A	ATRAID_ENST00000606999.1_Missense_Mutation_p.T139A|ATRAID_ENST00000405489.3_Missense_Mutation_p.T81A	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor																		TGCCTGGAATACTATCACCTC	0.423000													55	137					0	0	0.870114	0	0
CPLX4	339302	broad.mit.edu	37	18	56985537	56985537	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:56985537A>G	ENST00000299721.3	-	1	344	c.158T>C	c.(157-159)aTt>aCt	p.I53T	CPLX4_ENST00000587244.1_Missense_Mutation_p.I53T	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	53					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTCCTCAATCATTTGCTT	0.408000													56	148					0	0	0.870114	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526124	176526124	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:176526124G>T	ENST00000367662.3	+	2	1830	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.W222C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	222					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACCTTGGCCCAAGCATT	0.562000													35	110					1.99505e-19	2.95818e-19	0.760397	1	0
CLIC3	9022	broad.mit.edu	37	9	139889998	139889998	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:139889998G>A	ENST00000494426.1	-	3	424	c.165C>T	c.(163-165)gaC>gaT	p.D55D	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	55	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGGGCGAAGTCCTTCAGCA	0.697000													13	64					0	0	0.411799	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170185	20170185	+	RNA	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:20170185C>T	ENST00000338912.5	-	0	86																											GCTTCTTCACCTCAGCCCCAG	0.572000													24	69					0	0	0.624587	0	0
RAB34	83871	broad.mit.edu	37	17	27041920	27041920	+	Splice_Site	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:27041920T>A	ENST00000395245.3	-	9	1231		c.e9-2		RAB34_ENST00000415040.2_Splice_Site|RAB34_ENST00000447716.1_Splice_Site|RAB34_ENST00000395242.2_Splice_Site|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395243.3_Splice_Site|RAB34_ENST00000436730.3_Splice_Site|RAB34_ENST00000450529.1_Splice_Site|RAB34_ENST00000301043.6_Splice_Site	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CATTCTCACCTGACACAGAGA	0.587000													12	54					0	0	0.457914	0	0
ENPEP	2028	broad.mit.edu	37	4	111397696	111397696	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:111397696G>A	ENST00000265162.5	+	1	468	c.126G>A	c.(124-126)tcG>tcA	p.S42S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	42					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGACCAGATCGTGTGACTCCA	0.612000													9	156					0	0	0.387290	0	0
NEK10	152110	broad.mit.edu	37	3	27216146	27216146	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:27216146T>C	ENST00000429845.2	-	28	3046	c.2684A>G	c.(2683-2685)gAg>gGg	p.E895G	NEK10_ENST00000383770.3_Missense_Mutation_p.E207G|NEK10_ENST00000295720.6_Missense_Mutation_p.E207G|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.E207G|NEK10_ENST00000357467.2_Missense_Mutation_p.E292G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	895							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E895V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGTACCTTTCTCAGCATTTTC	0.483000													41	103					0	0	0.840704	0	0
OR5L1	219437	broad.mit.edu	37	11	55579237	55579237	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55579237G>T	ENST00000333973.2	+	1	384	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGGGTGCATGGTGCAATTCTA	0.453000													29	250					3.78316e-11	4.85599e-11	0.819951	1	0
LOC81691	81691	broad.mit.edu	37	16	20824541	20824541	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20824541T>C	ENST00000261377.6	+	3	377	c.168T>C	c.(166-168)acT>acC	p.T56T	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.T56T|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000348433.6_Silent_p.T56T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTTATTTACTGACAACTGTG	0.383000													23	58					0	0	0.639603	0	0
DNAH8	1769	broad.mit.edu	37	6	38754683	38754683	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:38754683G>A	ENST00000359357.3	+	16	2141	c.1887G>A	c.(1885-1887)ttG>ttA	p.L629L	DNAH8_ENST00000441566.1_Silent_p.L629L|DNAH8_ENST00000449981.2_Silent_p.L846L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAAGAGATTGCTAAAATTGG	0.308000													13	52					0	0	0.435327	0	0
MYO18B	84700	broad.mit.edu	37	22	26159210	26159210	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:26159210G>A	ENST00000335473.7	+	3	302	c.52G>A	c.(52-54)Gac>Aac	p.D18N	MYO18B_ENST00000407587.2_Missense_Mutation_p.D18N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D18N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	18						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGGGAAGAGGACAAGAGCCC	0.542000													8	34					0	0	0.335167	0	0
SOGA3	387104	broad.mit.edu	37	6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:127796902C>T	ENST00000556132.1	-	6	3133	c.2269G>A	c.(2269-2271)Gcg>Acg	p.A757T	SOGA3_ENST00000368268.2_Missense_Mutation_p.A757T|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A757T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757T	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	757						integral to membrane											TTCTTGCCCGCGTCGCTCTCG	0.697000													28	90					0	0	0.717897	0	0
CACNA1E	777	broad.mit.edu	37	1	181731752	181731752	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:181731752G>A	ENST00000526775.1	+	32	4756	c.4591G>A	c.(4591-4593)Gtg>Atg	p.V1531M	CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1501M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1157M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1482M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1550M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1531M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1550M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1550					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCATCACCGTGATTGGCAG	0.388000													10	26					0	0	0.361761	0	0
C3orf20	84077	broad.mit.edu	37	3	14755664	14755664	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:14755664C>A	ENST00000253697.3	+	8	1763	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.T315T|C3orf20_ENST00000412910.1_Silent_p.T315T	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	437						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCTAAAAACCAGGTAAGTGG	0.498000													18	33					9.16793e-09	1.09127e-08	0.520397	1	0
SPANXN1	494118	broad.mit.edu	37	X	144337280	144337280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:144337280C>A	ENST00000370493.3	+	2	924	c.165C>A	c.(163-165)tgC>tgA	p.C55*		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	55								p.C55C(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGTTTTGCTACAGGAAAG	0.433000													39	32					1.42033e-22	2.17153e-22	0.796494	1	0
SARDH	1757	broad.mit.edu	37	9	136597649	136597649	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:136597649C>T	ENST00000371872.4	-	3	663	c.406G>A	c.(406-408)Gag>Aag	p.E136K	SARDH_ENST00000439388.1_Missense_Mutation_p.E136K|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000371867.1_Missense_Mutation_p.E47K|SARDH_ENST00000298628.5_Missense_Mutation_p.E136K	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	136					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCTCCAGCTCCCGGCTCACC	0.672000													29	139					0	0	0.769981	0	0
ZIC1	7545	broad.mit.edu	37	3	147131168	147131168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147131168C>T	ENST00000282928.4	+	3	1903	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	392	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGGGCTCGCAGCCTTCGCC	0.622000													21	147					0	0	0.592651	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193309	132193309	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:132193309G>T	ENST00000359827.3	-	2	1106	c.144C>A	c.(142-144)gcC>gcA	p.A48A	PLXNA4_ENST00000423507.2_Silent_p.A48A|PLXNA4_ENST00000378539.5_Silent_p.A48A|PLXNA4_ENST00000321063.4_Silent_p.A48A			Q9HCM2	PLXA4_HUMAN	plexin A4	48	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAAACCCTCGGCGGGCTCTC	0.587000													18	90					9.16793e-09	1.09127e-08	0.520397	1	0
DUSP27	92235	broad.mit.edu	37	1	167096649	167096649	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:167096649A>G	ENST00000361200.2	+	6	2447	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S761G|DUSP27_ENST00000443333.1_Missense_Mutation_p.S761G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	761					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACCAGCGGCTAGCTGCCTGGG	0.562000													16	73					0	0	0.681144	0	0
MYOG	4656	broad.mit.edu	37	1	203054660	203054660	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:203054660G>C	ENST00000241651.4	-	1	504	c.430C>G	c.(430-432)Cgt>Ggt	p.R144G		NM_002479.4	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	144					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CGGAGGTCACGCTCCTCCTGG	0.701000													15	41					0	0	0.479597	0	0
EPHB1	2047	broad.mit.edu	37	3	134825427	134825427	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:134825427C>A	ENST00000398015.3	+	4	1313	c.943C>A	c.(943-945)Cca>Aca	p.P315T	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	315	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTTTGACCCTCCAGAAGTGGC	0.587000													17	57					5.3912e-06	5.93464e-06	0.539581	1	0
FN1	2335	broad.mit.edu	37	2	216251534	216251534	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:216251534A>C	ENST00000354785.4	-	28	4859	c.4490T>G	c.(4489-4491)gTg>gGg	p.V1497G	FN1_ENST00000323926.6_Missense_Mutation_p.V1497G|FN1_ENST00000443816.1_Missense_Mutation_p.V1406G|FN1_ENST00000421182.1_Missense_Mutation_p.V1406G|FN1_ENST00000336916.4_Missense_Mutation_p.V1406G|FN1_ENST00000446046.1_Missense_Mutation_p.V1406G|FN1_ENST00000432072.2_Missense_Mutation_p.V1497G|FN1_ENST00000359671.1_Missense_Mutation_p.V1406G|FN1_ENST00000357867.4_Missense_Mutation_p.V1406G|FN1_ENST00000357009.2_Missense_Mutation_p.V1406G|FN1_ENST00000346544.3_Missense_Mutation_p.V1406G|FN1_ENST00000345488.5_Missense_Mutation_p.V1406G|FN1_ENST00000356005.4_Missense_Mutation_p.V1406G			P02751	FINC_HUMAN	fibronectin 1	1496	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGTGGGGCACCCGATCTTC	0.542000													12	40					0	0	0.411799	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215406	140215406	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140215406G>T	ENST00000525929.1	+	1	1438	c.1438G>T	c.(1438-1440)Ggg>Tgg	p.G480W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G480W|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTCGGCGGGGGACGCGGA	0.672000													22	26					7.92952e-12	1.03324e-11	0.667858	1	0
OGDHL	55753	broad.mit.edu	37	10	50954889	50954889	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:50954889A>C	ENST00000374103.4	-	10	1288	c.1203T>G	c.(1201-1203)ttT>ttG	p.F401L	OGDHL_ENST00000432695.1_Missense_Mutation_p.F192L|OGDHL_ENST00000419399.1_Missense_Mutation_p.F344L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	401					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCTGGCCAGCAAAGGCGGCGT	0.637000													10	34					0	0	0.361761	0	0
ZIC1	7545	broad.mit.edu	37	3	147130344	147130344	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:147130344G>C	ENST00000282928.4	+	2	1751	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	341					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCTGTGACCGGCGCTTCGCT	0.532000													29	117					0	0	0.750413	0	0
PRDM5	11107	broad.mit.edu	37	4	121828688	121828688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:121828688C>A	ENST00000264808.3	-	2	358	c.118G>T	c.(118-120)Gga>Tga	p.G40*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.G40*|PRDM5_ENST00000394435.2_Nonsense_Mutation_p.G40*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.G40*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	40	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCTTCTCTCCAGCAAAGGGT	0.328000													45	114					3.50607e-19	5.13228e-19	0.870114	1	0
NPAP1	23742	broad.mit.edu	37	15	24921750	24921750	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:24921750G>C	ENST00000329468.2	+	1	1210	c.736G>C	c.(736-738)Gcc>Ccc	p.A246P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACACAGCCAGGCCGGATGTGC	0.622000													16	45					0	0	0.479597	0	0
GALR1	2587	broad.mit.edu	37	18	74962794	74962794	+	Missense_Mutation	SNP	C	C	A	rs140216881	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:74962794C>A	ENST00000299727.3	+	1	290	c.290C>A	c.(289-291)gCg>gAg	p.A97E		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	97					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACCGTGTACGCGCTGCCCACC	0.617000													28	128					1.39806e-14	1.90091e-14	0.729181	1	0
IFT80	57560	broad.mit.edu	37	3	160037641	160037641	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:160037641A>G	ENST00000326448.7	-	9	1296	c.864T>C	c.(862-864)tgT>tgC	p.C288C	RP11-432B6.3_ENST00000483754.1_Silent_p.C459C|IFT80_ENST00000496589.1_Silent_p.C151C|IFT80_ENST00000483465.1_Silent_p.C151C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	288						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCCATTTCCACAGGCTCCAG	0.408000													45	145					0	0	0.870114	0	0
CENPE	1062	broad.mit.edu	37	4	104062227	104062227	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:104062227A>G	ENST00000265148.3	-	36	5587	c.5498T>C	c.(5497-5499)aTt>aCt	p.I1833T	CENPE_ENST00000380026.3_Missense_Mutation_p.I1808T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1833					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTTAACGTAATAAGTTGATG	0.279000													9	31					0	0	0.307466	0	0
TMEM44	93109	broad.mit.edu	37	3	194336360	194336360	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:194336360T>A	ENST00000392432.2	-	8	1196	c.991A>T	c.(991-993)Aga>Tga	p.R331*	TMEM44_ENST00000347147.4_Nonsense_Mutation_p.R284*|TMEM44_ENST00000381975.3_Nonsense_Mutation_p.R284*|TMEM44_ENST00000273580.7_Nonsense_Mutation_p.R284*|TMEM44_ENST00000473092.1_Nonsense_Mutation_p.R284*	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	331						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GGGCTCTCTCTGGCTTCCTTG	0.478000													104	390					0	0	0.870114	0	0
PCLO	27445	broad.mit.edu	37	7	82579581	82579581	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:82579581C>A	ENST00000423517.2	-	6	10660	c.10323G>T	c.(10321-10323)gtG>gtT	p.V3441V	PCLO_ENST00000437081.1_Silent_p.V161V|PCLO_ENST00000333891.8_Silent_p.V3441V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3372					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCACTGTCCACTATCTTTT	0.433000													65	81					9.40535e-28	1.50136e-27	0.870114	1	0
PGK2	5232	broad.mit.edu	37	6	49754394	49754394	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:49754394T>C	ENST00000304801.3	-	1	659	c.507A>G	c.(505-507)gcA>gcG	p.A169A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	169					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GAGCGCGGTGTGCAGTGCCAA	0.453000													28	73					0	0	0.693898	0	0
MYCBP2	23077	broad.mit.edu	37	13	77633756	77633756	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:77633756G>C	ENST00000407578.2	-	77	13308	c.13042C>G	c.(13042-13044)Ccc>Gcc	p.P4348A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P4310A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P4310A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCGTGGTGGGTTTGCCTAGG	0.393000													27	69					0	0	0.693898	0	0
NPAP1	23742	broad.mit.edu	37	15	24922585	24922585	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:24922585C>G	ENST00000329468.2	+	1	2045	c.1571C>G	c.(1570-1572)cCt>cGt	p.P524R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGGATTCCCCTCCTCCTCTT	0.547000													71	281					0	0	0.870114	0	0
NSD1	64324	broad.mit.edu	37	5	176637631	176637631	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:176637631C>G	ENST00000439151.2	+	5	2276	c.2231C>G	c.(2230-2232)tCa>tGa	p.S744*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S475*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S641*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	744					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAACCCCAGTCAGATTTTACA	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			25	56					0	0	0.654019	0	0
MED13	9969	broad.mit.edu	37	17	60130054	60130054	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:60130054C>T	ENST00000397786.2	-	3	390	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	105					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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	p.G105A(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCCCACACTCCATCTTCTTC	0.338000													44	181					0	0	0.859065	0	0
IQUB	154865	broad.mit.edu	37	7	123152340	123152340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:123152340C>A	ENST00000466202.1	-	2	631	c.55G>T	c.(55-57)Gag>Tag	p.E19*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E19*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E19*|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	19										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCATCACTCTCTTCTGTTGAA	0.348000													25	147					1.96895e-08	2.32356e-08	0.639603	1	0
L3MBTL3	84456	broad.mit.edu	37	6	130392248	130392248	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130392248A>G	ENST00000529410.1	+	15	1699	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N382S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N407S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N382S|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N382S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N407S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	407					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATTTTGACAACTGGGATGAG	0.368000													64	223					0	0	0.870114	0	0
COL5A1	1289	broad.mit.edu	37	9	137653806	137653806	+	Silent	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:137653806G>C	ENST00000371817.3	+	19	2385	c.1971G>C	c.(1969-1971)ccG>ccC	p.P657P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGACCTCCGGGAGACGATG	0.597000													23	81					0	0	0.608945	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269708	100269708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:100269708T>A	ENST00000545021.1	-	4	947	c.133A>T	c.(133-135)Aag>Tag	p.K45*	LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.K172*|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.K171*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.K171*			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	171					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATCCCCTTAAAGAAGCCC	0.582000													40	103					0	0	0.804634	0	0
WDFY3	23001	broad.mit.edu	37	4	85600085	85600085	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:85600085G>A	ENST00000322366.6	-	64	10490	c.10083C>T	c.(10081-10083)agC>agT	p.S3361S	WDFY3_ENST00000295888.4_Silent_p.S3378S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTCAATCTGCTGTAATTCC	0.517000													40	89					0	0	0.853193	0	0
FOXA1	3169	broad.mit.edu	37	14	38061917	38061917	+	Splice_Site	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:38061917C>G	ENST00000250448.2	-	2	134		c.e2-1		FOXA1_ENST00000540786.1_Splice_Site|FOXA1_ENST00000545425.2_Splice_Site	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1						chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGAGTAGGCCTGGAGTGGAG	0.627000													12	57					0	0	0.411799	0	0
C22orf29	79680	broad.mit.edu	37	22	19839663	19839663	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:19839663G>A	ENST00000405640.1	-	2	790	c.122C>T	c.(121-123)cCc>cTc	p.P41L	C22orf29_ENST00000328554.4_Missense_Mutation_p.P41L|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P41L|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	41										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATCCACAAGGGGGGTGTATGC	0.617000													48	125					0	0	0.870114	0	0
CAP2	10486	broad.mit.edu	37	6	17539517	17539517	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:17539517A>G	ENST00000229922.2	+	8	1186	c.654A>G	c.(652-654)acA>acG	p.T218T	CAP2_ENST00000489374.1_Silent_p.T106T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.T154T|CAP2_ENST00000378990.2_Silent_p.T192T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	218					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TAGCATCCACAGTATCAGCGT	0.567000													59	195					0	0	0.870114	0	0
FOXI1	2299	broad.mit.edu	37	5	169535593	169535593	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:169535593C>A	ENST00000449804.2	+	2	875	c.830C>A	c.(829-831)cCc>cAc	p.P277H	FOXI1_ENST00000306268.6_Missense_Mutation_p.P372H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	372					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCTCTACCCCAGGGAGGGC	0.572000									Pendred syndrome				24	75					7.38237e-10	9.15148e-10	0.706142	1	0
IGSF21	84966	broad.mit.edu	37	1	18692115	18692115	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:18692115C>G	ENST00000251296.1	+	6	1322	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	313						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACCCACAGATCGACAACGAGG	0.642000													23	57					0	0	0.624587	0	0
NAV3	89795	broad.mit.edu	37	12	78444857	78444857	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78444857G>C	ENST00000397909.2	+	11	2619	c.2446G>C	c.(2446-2448)Gat>Cat	p.D816H	NAV3_ENST00000228327.6_Missense_Mutation_p.D816H|NAV3_ENST00000266692.7_Missense_Mutation_p.D816H|NAV3_ENST00000536525.2_Missense_Mutation_p.D816H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	816						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTCTGAGGTCGATGTGGGTGG	0.493000										HNSCC(70;0.22)			12	56					0	0	0.387290	0	0
GPR155	151556	broad.mit.edu	37	2	175326175	175326175	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:175326175G>A	ENST00000392552.2	-	9	1753	c.1515C>T	c.(1513-1515)caC>caT	p.H505H	GPR155_ENST00000295500.4_Silent_p.H505H|GPR155_ENST00000392551.2_Silent_p.H505H	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	505					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TATCTCCATTGTGTTTTCCAG	0.383000													43	137					0	0	0.870114	0	0
MED12L	116931	broad.mit.edu	37	3	151067863	151067863	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:151067863A>T	ENST00000474524.1	+	15	2200	c.2162A>T	c.(2161-2163)cAt>cTt	p.H721L	MED12L_ENST00000273432.4_Missense_Mutation_p.H581L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	721					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTCAAGTCATGAATGTAAC	0.433000													100	592					0	0	0.870114	0	0
FREM1	158326	broad.mit.edu	37	9	14812864	14812864	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:14812864C>G	ENST00000380881.4	-	17	3657	c.2842G>C	c.(2842-2844)Gat>Cat	p.D948H	FREM1_ENST00000422223.2_Missense_Mutation_p.D947H|FREM1_ENST00000380880.3_Missense_Mutation_p.D947H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	947					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGAACTGATCCACTGTGACT	0.488000													70	147					0	0	0.870114	0	0
TBX22	50945	broad.mit.edu	37	X	79281194	79281194	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:79281194G>T	ENST00000442340.1	+	5	681	c.191G>T	c.(190-192)tGc>tTc	p.C64F	TBX22_ENST00000373296.3_Missense_Mutation_p.C184F|TBX22_ENST00000373294.5_Missense_Mutation_p.C184F|TBX22_ENST00000373291.1_Missense_Mutation_p.C64F	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	184					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.C184F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GACTCACCCTGCTCGGGAGAG	0.488000													15	22					6.72482e-11	8.55209e-11	0.479597	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136727	40136727	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:40136727C>A	ENST00000278198.2	-	2	3079	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	LRRC4C_ENST00000530763.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E372D|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E372D			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	372	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACATTTCAGCTCAGCTGCCA	0.517000													28	60					2.81731e-10	3.51781e-10	0.750413	1	0
ABCC9	10060	broad.mit.edu	37	12	22013989	22013989	+	Splice_Site	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:22013989C>T	ENST00000261200.4	-	19	2339	c.2339_splice	c.e19-1	p.R780_splice	ABCC9_ENST00000345162.2_Splice_Site_p.R744_splice|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Splice_Site_p.R780_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	780	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGCTTTGTACCTTTGGGAGA	0.333000													23	99					0	0	0.654019	0	0
SPTA1	6708	broad.mit.edu	37	1	158636152	158636152	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:158636152C>A	ENST00000368148.3	-	16	2354	c.2174G>T	c.(2173-2175)cGa>cTa	p.R725L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R725L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	725					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTCCTGAGTCGATTCTGTAC	0.517000													10	41					2.27111e-07	2.59125e-07	0.411799	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105967590	105967590	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:105967590T>C	ENST00000278618.4	+	6	1108	c.886T>C	c.(886-888)Tgc>Cgc	p.C296R	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	296					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GGACTGTTTTTGCTTCACAGA	0.378000													11	48					0	0	0.387290	0	0
UBXN7	26043	broad.mit.edu	37	3	196129879	196129879	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:196129879C>T	ENST00000535858.1	-	0	112				UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000296328.4_Missense_Mutation_p.R78H			O94888	UBXN7_HUMAN	UBX domain protein 7								protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AATTGGGGCACGAACTTCTTC	0.318000													56	373					0	0	0.870114	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570737	20570737	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20570737C>A	ENST00000329697.6	-	3	378	c.210G>T	c.(208-210)tgG>tgT	p.W70C	ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.W70C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.W70C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	70					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						CATTCACCCACCACAGGGCTG	0.532000													8	27					3.86212e-05	4.16479e-05	0.361761	1	0
HBE1	3046	broad.mit.edu	37	11	5290723	5290723	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:5290723C>A	ENST00000380237.1	-	4	620	c.276G>T	c.(274-276)ctG>ctT	p.L92L	HBE1_ENST00000292896.2_Silent_p.L92L|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	92					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACAGTGCAGCTCACTCA	0.458000													33	135					6.53348e-20	9.72951e-20	0.788014	1	0
ANKRD44	91526	broad.mit.edu	37	2	197943433	197943433	+	Silent	SNP	C	C	A	rs146996314		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:197943433C>A	ENST00000328737.2	-	16	1645	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	ANKRD44_ENST00000450567.1_Silent_p.L523L|ANKRD44_ENST00000337207.5_Silent_p.L523L|ANKRD44_ENST00000539527.1_Silent_p.L476L|ANKRD44_ENST00000282272.8_Silent_p.L540L|ANKRD44_ENST00000409153.1_Silent_p.L548L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	548							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCACCAATTCCAGACACTGCC	0.418000													11	20					0.000219431	0.000235154	0.457914	1	0
CHST13	166012	broad.mit.edu	37	3	126255138	126255138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:126255138C>A	ENST00000319340.2	+	2	172	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	41					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCCCTGGGCTCCAGCTGGCTT	0.592000													21	122					2.27525e-19	3.35917e-19	0.667858	1	0
OR2M5	127059	broad.mit.edu	37	1	248308673	248308673	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:248308673G>T	ENST00000366476.1	+	1	224	c.224G>T	c.(223-225)tGc>tTc	p.C75F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTCATCTGCTCTACCGTA	0.488000													289	472					4.04438e-157	6.83669e-157	0.870114	1	0
ZNF630	57232	broad.mit.edu	37	X	47919477	47919477	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:47919477G>C	ENST00000276054.4	-	0	916				ZNF630_ENST00000409324.3_Missense_Mutation_p.I118M|ZNF630_ENST00000442455.3_Missense_Mutation_p.I104M|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CAATATGCCAGATTTTTAAAA	0.373000													5	5					0	0	0.184627	0	0
KRT12	3859	broad.mit.edu	37	17	39022952	39022952	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:39022952T>A	ENST00000251643.4	-	1	510	c.487A>T	c.(487-489)Aca>Tca	p.T163S		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	163	Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GTTCCTCGTGTTTCATACCAT	0.408000													54	208					0	0	0.870114	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269234	30269234	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30269234C>A	ENST00000378981.3	+	4	945	c.624C>A	c.(622-624)atC>atA	p.I208I	MAGEB1_ENST00000397548.2_Silent_p.I208I|MAGEB1_ENST00000397550.1_Silent_p.I208I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	208	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGGGTGTGATCTTCTTAAAGG	0.493000													3	7					0.004672	0.00484087	0.115264	1	0
COL1A2	1278	broad.mit.edu	37	7	94049949	94049949	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:94049949G>T	ENST00000297268.6	+	37	2755	c.2284G>T	c.(2284-2286)Gct>Tct	p.A762S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	762			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTTGGAGCTGCTGGCCCAGC	0.512000										HNSCC(75;0.22)			4	8					0.00909568	0.00932612	0.150653	1	0
TAS2R50	259296	broad.mit.edu	37	12	11139067	11139067	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:11139067C>T	ENST00000506868.1	-	1	444	c.393G>A	c.(391-393)gtG>gtA	p.V131V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	131					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						CCAACAGTATCACCAGAATGA	0.388000													80	256					0	0	0.870114	0	0
WDR49	151790	broad.mit.edu	37	3	167272580	167272580	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:167272580C>T	ENST00000308378.3	-	6	963	c.658G>A	c.(658-660)Gac>Aac	p.D220N	WDR49_ENST00000476376.1_Missense_Mutation_p.D45N|WDR49_ENST00000453925.2_Missense_Mutation_p.D273N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	220										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATTGAAGTCCCATATCTTT	0.323000													56	219					0	0	0.870114	0	0
CALCRL	10203	broad.mit.edu	37	2	188245205	188245205	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:188245205C>T	ENST00000409998.1	-	8	1178	c.397G>A	c.(397-399)Gag>Aag	p.E133K	CALCRL_ENST00000392370.3_Missense_Mutation_p.E133K|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.E133K|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	133						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTCACTTTCTCGTGGGTGTTA	0.338000													10	253					0	0	0.361761	0	0
MORC1	27136	broad.mit.edu	37	3	108822766	108822766	+	Splice_Site	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:108822766T>A	ENST00000232603.5	-	4	237		c.e4-2		MORC1_ENST00000483760.1_Splice_Site|MORC1-AS1_ENST00000480826.1_RNA	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATTATCCACTGTAAGAGAAA	0.398000													45	133					0	0	0.870114	0	0
IGF1R	3480	broad.mit.edu	37	15	99456390	99456390	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:99456390T>A	ENST00000268035.6	+	8	2318	c.1707T>A	c.(1705-1707)caT>caA	p.H569Q	IGF1R_ENST00000558762.1_Missense_Mutation_p.H569Q	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	569	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTTACTACATGGGCTGAAGC	0.582000													28	65					0	0	0.750413	0	0
DOCK3	1795	broad.mit.edu	37	3	51263131	51263131	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:51263131G>T	ENST00000266037.9	+	15	1327	c.1304G>T	c.(1303-1305)aGa>aTa	p.R435I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	435	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATTTCGAGAGAGGAGGAAAG	0.463000													44	74					7.53189e-24	1.1671e-23	0.834066	1	0
OR9K2	441639	broad.mit.edu	37	12	55523823	55523823	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:55523823C>A	ENST00000305377.5	+	1	359	c.271C>A	c.(271-273)Ctc>Atc	p.L91I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CCTAGGCAATCTCTCCTTCAT	0.408000													68	278					2.69673e-31	4.39657e-31	0.870114	1	0
IL1RL1	9173	broad.mit.edu	37	2	102955393	102955393	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:102955393C>G	ENST00000311734.2	+	3	497	c.158C>G	c.(157-159)aCa>aGa	p.T53R	IL1RL1_ENST00000393393.3_Missense_Mutation_p.T53R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.T53R|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.T53R|IL1RL1_ENST00000473175.1_3'UTR			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	53	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TACTCACAAACAAACAAAAGT	0.418000													54	231					0	0	0.870114	0	0
KCNT1	57582	broad.mit.edu	37	9	138662904	138662904	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:138662904G>T	ENST00000298480.5	+	18	2045	c.1971G>T	c.(1969-1971)ccG>ccT	p.P657P	KCNT1_ENST00000487664.1_Silent_p.P612P|KCNT1_ENST00000486577.2_Silent_p.P618P|KCNT1_ENST00000488444.2_Silent_p.P638P|KCNT1_ENST00000491806.2_Silent_p.P624P|KCNT1_ENST00000371757.2_Silent_p.P657P|KCNT1_ENST00000263604.3_Silent_p.P638P|KCNT1_ENST00000490355.2_Silent_p.P638P			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	657						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGAGGGTCCGGCCCGCCTGC	0.662000													3	16					0.115264	0.116964	0.115264	1	0
TYK2	7297	broad.mit.edu	37	19	10464800	10464800	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:10464800C>A	ENST00000525621.1	-	20	3307	c.2826G>T	c.(2824-2826)tcG>tcT	p.S942S	TYK2_ENST00000524462.1_Silent_p.S757S|TYK2_ENST00000264818.6_Silent_p.S942S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	942	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTTCCAGCCCGAGCGGTGCT	0.627000													34	128					1.22384e-17	1.73608e-17	0.769981	1	0
MCC	4163	broad.mit.edu	37	5	112384928	112384928	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:112384928C>A	ENST00000302475.4	-	14	2510	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.K586N|MCC_ENST00000408903.3_Missense_Mutation_p.K839N	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	649					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCGTGCTCAGCTTCAGCTCCA	0.597000													14	29					4.93089e-13	6.52395e-13	0.457914	1	0
SLC30A3	7781	broad.mit.edu	37	2	27480193	27480193	+	Silent	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:27480193C>G	ENST00000233535.4	-	5	958	c.606G>C	c.(604-606)ggG>ggC	p.G202G	SLC30A3_ENST00000447008.2_Silent_p.G197G	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	202					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGGGGGGCCCAGCCTGGT	0.662000													8	17					0	0	0.335167	0	0
THSD7A	221981	broad.mit.edu	37	7	11416278	11416278	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:11416278C>G	ENST00000423059.3	-	27	5059	c.4808G>C	c.(4807-4809)aGa>aCa	p.R1603T	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1603						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGTCTTTAGTCTCCCATCTAA	0.353000										HNSCC(18;0.044)			4	8					0	0	0.150653	0	0
BAI1	575	broad.mit.edu	37	8	143623649	143623649	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:143623649A>T	ENST00000517894.1	+	28	4948	c.4054A>T	c.(4054-4056)Acg>Tcg	p.T1352S	BAI1_ENST00000323289.5_Missense_Mutation_p.T1352S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1352					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCACGGCCACGGCCACGCT	0.652000													20	23					0	0	0.557998	0	0
KCNH6	81033	broad.mit.edu	37	17	61623183	61623183	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:61623183C>A	ENST00000583023.1	+	14	2916	c.2905C>A	c.(2905-2907)Cac>Aac	p.H969N	KCNH6_ENST00000314672.5_Missense_Mutation_p.H933N|KCNH6_ENST00000581784.1_Missense_Mutation_p.H880N|KCNH6_ENST00000456941.2_Missense_Mutation_p.H880N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	969					regulation of transcription, DNA-dependent|signal transduction			p.H969N(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCCCTGAACACCTTGGCTC	0.567000													38	130					6.99958e-10	8.69262e-10	0.827153	1	0
OR10G8	219869	broad.mit.edu	37	11	123900787	123900787	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:123900787T>A	ENST00000431524.1	+	1	491	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGTGGCTCTCTGCACTCTGCT	0.552000													51	115					0	0	0.870114	0	0
UGT3A1	133688	broad.mit.edu	37	5	35988630	35988630	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:35988630C>A	ENST00000274278.3	-	2	475	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D40Y|UGT3A1_ENST00000333811.4_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	40						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACACCCGGTCCAACAGTAGG	0.388000													14	64					0.0285812	0.0292182	0.500413	1	0
SMIM21	284274	broad.mit.edu	37	18	73130849	73130849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:73130849C>T	ENST00000584508.1	-	2	270	c.152G>A	c.(151-153)cGt>cAt	p.R51H	RP11-321M21.3_ENST00000578340.1_3'UTR|SMIM21_ENST00000579022.1_Missense_Mutation_p.R51H|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_3'UTR					small integral membrane protein 21									p.R51P(1)									TGTGAAGAAACGAATATGGTG	0.383000													32	87					0	0	0.740014	0	0
LRP1B	53353	broad.mit.edu	37	2	141460116	141460116	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:141460116C>A	ENST00000389484.3	-	38	7001	c.6030G>T	c.(6028-6030)ttG>ttT	p.L2010F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2010					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTCCAGAACAAGAGGCTGA	0.398000										TSP Lung(27;0.18)			18	80					2.37509e-13	3.16679e-13	0.592651	1	0
ANO5	203859	broad.mit.edu	37	11	22294481	22294481	+	Silent	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:22294481A>T	ENST00000324559.8	+	19	2498	c.2181A>T	c.(2179-2181)atA>atT	p.I727I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	727						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCATAGCATAGGTGTTTGGC	0.403000													42	144					0	0	0.853193	0	0
STXBP5	134957	broad.mit.edu	37	6	147655334	147655334	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:147655334G>A	ENST00000367481.3	+	19	2230	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	STXBP5_ENST00000321680.6_Missense_Mutation_p.D708N|STXBP5_ENST00000179882.6_Missense_Mutation_p.D379N|STXBP5_ENST00000367480.3_Missense_Mutation_p.D708N	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	708					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			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)		TGTTCCAGAGGATCGCTGCAA	0.328000													26	76					0	0	0.729181	0	0
VSIG2	23584	broad.mit.edu	37	11	124617497	124617497	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:124617497G>A	ENST00000326621.5	-	7	1018	c.918C>T	c.(916-918)ttC>ttT	p.F306F	NRGN_ENST00000526916.2_3'UTR	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	306						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GTCTTTCCAGGAACCCCTTGC	0.562000													6	66					0	0	0.217242	0	0
SLC5A5	6528	broad.mit.edu	37	19	17994720	17994720	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17994720C>T	ENST00000222248.3	+	12	1738	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	464					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTGGGCGCCACGCTGTACCCA	0.721000													5	2					0	0	0.184627	0	0
PDHA2	5161	broad.mit.edu	37	4	96761292	96761292	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:96761292C>A	ENST00000295266.4	+	0	54					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TACAGCACTCCGTGAAGAATA	0.622000													7	14					1.06961e-07	1.23265e-07	0.278610	1	0
LAMA1	284217	broad.mit.edu	37	18	7079977	7079977	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:7079977T>A	ENST00000389658.3	-	3	435	c.342A>T	c.(340-342)agA>agT	p.R114S	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	114	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTACCTGTCTTAAGTCCA	0.468000													13	49					0	0	0.479597	0	0
GALNT3	2591	broad.mit.edu	37	2	166606398	166606398	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166606398C>T	ENST00000392701.3	-	10	2408	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	GALNT3_ENST00000409882.1_Missense_Mutation_p.E283K	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	545	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E545K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCAGAGTATTCAAAGTACTAT	0.383000													33	130					0	0	0.779181	0	0
CHN2	1124	broad.mit.edu	37	7	29539573	29539573	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:29539573G>T	ENST00000222792.6	+	9	1360	c.830G>T	c.(829-831)tGt>tTt	p.C277F	CHN2_ENST00000539406.1_Missense_Mutation_p.C352F|CHN2_ENST00000495789.2_Missense_Mutation_p.C290F|CHN2_ENST00000424025.2_Missense_Mutation_p.C96F|CHN2_ENST00000409041.4_Missense_Mutation_p.C141F|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.C141F|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.C262F|CHN2_ENST00000539389.1_Missense_Mutation_p.C133F	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	277	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGTACTGTTGTGACCTCACA	0.443000													13	46					2.27111e-07	2.59125e-07	0.411799	1	0
SMOC2	64094	broad.mit.edu	37	6	169064781	169064781	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:169064781C>T	ENST00000354536.5	+	12	1566	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	SMOC2_ENST00000356284.2_Missense_Mutation_p.S438F|SMOC2_ENST00000477998.1_3'UTR	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	438					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GAAAGTACGTCTAATAGACAG	0.294000													18	55					0	0	0.624587	0	0
HCN4	10021	broad.mit.edu	37	15	73659940	73659940	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:73659940G>A	ENST00000261917.3	-	1	1665	c.672C>T	c.(670-672)ccC>ccT	p.P224P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	224	Involved in subunit assembly (By similarity).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTTGACCCCGGGTTGGAGCA	0.652000													15	53					0	0	0.520397	0	0
ABCG8	64241	broad.mit.edu	37	2	44079562	44079562	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:44079562C>T	ENST00000272286.2	+	5	721	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	211	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTACGTGCGGGGGTTGTC	0.667000													19	44					0	0	0.557998	0	0
SESTD1	91404	broad.mit.edu	37	2	180014079	180014079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:180014079C>G	ENST00000428443.3	-	7	842	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	176					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.E176K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAAGCAAGTTCATCTAATAAT	0.289000													13	34					0	0	0.435327	0	0
TRPC1	7220	broad.mit.edu	37	3	142522827	142522827	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:142522827G>T	ENST00000273482.6	+	10	2055	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	TRPC1_ENST00000476941.1_Missense_Mutation_p.G589V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	589					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGGTTCATTGGCACCTGCTTT	0.328000													22	108					1.10923e-09	1.36521e-09	0.639603	1	0
NEK10	152110	broad.mit.edu	37	3	27233635	27233635	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:27233635G>C	ENST00000429845.2	-	27	2752	c.2390C>G	c.(2389-2391)tCc>tGc	p.S797C	NEK10_ENST00000383770.3_Missense_Mutation_p.S109C|NEK10_ENST00000295720.6_Missense_Mutation_p.S109C|NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.S109C|NEK10_ENST00000357467.2_Missense_Mutation_p.S194C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	797							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGACAACTGGGATGTAGATAA	0.448000													32	73					0	0	0.750413	0	0
PAPPA	5069	broad.mit.edu	37	9	118950444	118950444	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:118950444C>G	ENST00000328252.3	+	2	1796	c.1427C>G	c.(1426-1428)cCt>cGt	p.P476R		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	476	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCTGTGACCCTGAAATCACC	0.507000													13	44					0	0	0.411799	0	0
BICD1	636	broad.mit.edu	37	12	32480467	32480467	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:32480467G>T	ENST00000548411.1	+	5	1259	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	BICD1_ENST00000281474.5_Missense_Mutation_p.A360S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	360					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CACCAAGGGGGCACTGACGGA	0.562000													28	58					1.16021e-09	1.4254e-09	0.717897	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882377	228882377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:228882377G>T	ENST00000392056.3	-	7	3239	c.3193C>A	c.(3193-3195)Ccc>Acc	p.P1065T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1065						cytoplasm	protein binding	p.P1065T(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGATTCCGGGGATAGCCCTGC	0.562000													25	45					3.73808e-20	5.59087e-20	0.693898	1	0
ZNF440	126070	broad.mit.edu	37	19	11942380	11942380	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:11942380G>C	ENST00000304060.5	+	4	553	c.389G>C	c.(388-390)gGa>gCa	p.G130A		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGTGACATTGGACACAAGGCA	0.403000													21	216					0	0	0.870114	0	0
ZNF677	342926	broad.mit.edu	37	19	53740380	53740380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:53740380G>A	ENST00000333952.4	-	5	1765	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Q534*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TGTATTTTCTGGTGTCTAGTG	0.318000													23	87					0	0	0.624587	0	0
CNTN5	53942	broad.mit.edu	37	11	99827584	99827584	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:99827584G>T	ENST00000524871.1	+	8	1010	c.720G>T	c.(718-720)gcG>gcT	p.A240A	CNTN5_ENST00000528682.1_Silent_p.A240A|CNTN5_ENST00000279463.3_Silent_p.A240A|CNTN5_ENST00000418526.2_Silent_p.A166A|CNTN5_ENST00000527185.1_Silent_p.A240A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	240	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTTGTGGCGGAAGACAGCC	0.393000													17	50					4.96729e-08	5.76306e-08	0.575678	1	0
GPR133	283383	broad.mit.edu	37	12	131620641	131620641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:131620641G>A	ENST00000261654.5	+	22	2886	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Missense_Mutation_p.G808D|GPR133_ENST00000376682.4_Missense_Mutation_p.G462D|GPR133_ENST00000543617.1_Missense_Mutation_p.G295D	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGGGTCTTTGGCGTGCTTGCT	0.617000													10	48					0	0	0.361761	0	0
NUP54	53371	broad.mit.edu	37	4	77053715	77053715	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:77053715G>T	ENST00000264883.3	-	6	1008	c.868C>A	c.(868-870)Cct>Act	p.P290T	NUP54_ENST00000458189.2_Missense_Mutation_p.P110T|NUP54_ENST00000342467.6_Missense_Mutation_p.P110T|NUP54_ENST00000514987.1_Missense_Mutation_p.P242T	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	290	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATCTGTGCAGGAGAAAGTTCT	0.383000													9	224					1.61879e-10	2.03607e-10	0.411799	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995492	140995492	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140995492G>C	ENST00000285879.4	+	4	2588	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	768							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCCTGAGGGGCCTGC	0.537000										HNSCC(15;0.026)			98	122					0	0	0.870114	0	0
A1BG	1	broad.mit.edu	37	19	58862906	58862906	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:58862906C>T	ENST00000263100.3	-	5	822	c.761G>A	c.(760-762)aGg>aAg	p.R254K	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	254	Ig-like V-type 3.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGTGCTGCTCCTGGGTACCAG	0.627000													11	50					0	0	0.387290	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994309	140994309	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:140994309C>A	ENST00000285879.4	+	4	1405	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	373							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTCCTCTCCAGATTCCTG	0.478000										HNSCC(15;0.026)			90	104					7.49063e-41	1.25391e-40	0.870114	1	0
DPP6	1804	broad.mit.edu	37	7	154681206	154681206	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:154681206A>G	ENST00000404039.1	+	25	2812	c.2225A>G	c.(2224-2226)cAa>cGa	p.Q742R	DPP6_ENST00000377770.3_Missense_Mutation_p.Q806R|DPP6_ENST00000332007.3_Missense_Mutation_p.Q744R|DPP6_ENST00000427557.1_Missense_Mutation_p.Q699R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	806					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCATTACACAACTAATTAGG	0.378000													9	15					0	0	0.335167	0	0
ZAP70	7535	broad.mit.edu	37	2	98340653	98340653	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:98340653C>T	ENST00000264972.5	+	3	369	c.154C>T	c.(154-156)Cac>Tac	p.H52Y		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	52	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTCGCTCGTGCACGATGTGCG	0.677000													8	8					0	0	0.278610	0	0
DNAH3	55567	broad.mit.edu	37	16	21038393	21038393	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:21038393G>A	ENST00000261383.3	-	38	5495	c.5496C>T	c.(5494-5496)ttC>ttT	p.F1832F	DNAH3_ENST00000415178.1_Silent_p.F1832F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1832	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGCGGGCTCGAAGATCAGGC	0.572000													10	40					0	0	0.361761	0	0
KIF6	221458	broad.mit.edu	37	6	39353414	39353414	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:39353414T>C	ENST00000287152.7	-	16	1939	c.1845A>G	c.(1843-1845)atA>atG	p.I615M	KIF6_ENST00000229913.5_Missense_Mutation_p.I66M|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000538893.1_Missense_Mutation_p.I559M|KIF6_ENST00000373216.3_Missense_Mutation_p.I615M|KIF6_ENST00000373213.4_Missense_Mutation_p.I454M|KIF6_ENST00000541946.1_Missense_Mutation_p.I66M|KIF6_ENST00000394362.1_Missense_Mutation_p.I66M	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	615					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTACTTGCTGTATATGCCGCT	0.448000													15	74					0	0	0.500413	0	0
POT1	25913	broad.mit.edu	37	7	124499083	124499083	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:124499083G>A	ENST00000357628.3	-	9	1228	c.630C>T	c.(628-630)atC>atT	p.I210I	POT1_ENST00000393329.1_Silent_p.I79I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	210					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTAGCCGATGGATGTGACTTA	0.393000													60	59					0	0	0.870114	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431893	56431893	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56431893C>A	ENST00000302969.2	+	1	756	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCGGGTCTCACCTTACTGGCA	0.498000													40	92					1.30091e-30	2.10594e-30	0.827153	1	0
IRX1	79192	broad.mit.edu	37	5	3600253	3600253	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:3600253C>T	ENST00000302006.3	+	2	1243	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTGGCGCTCCCCACGCCGCGC	0.667000													11	42					0	0	0.387290	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986470	51986470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:51986470G>A	ENST00000396477.4	+	4	894	c.873G>A	c.(871-873)atG>atA	p.M291I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M352I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	352	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGAGCAGATGGGCCGTTACC	0.557000													35	93					0	0	0.760397	0	0
MBD5	55777	broad.mit.edu	37	2	149226486	149226486	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:149226486G>T	ENST00000407073.1	+	9	1971	c.974G>T	c.(973-975)cGa>cTa	p.R325L	MBD5_ENST00000404807.1_Missense_Mutation_p.R325L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	325						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAAATACCACGAGCAATGTTC	0.433000													23	59					2.89027e-11	3.72379e-11	0.624587	1	0
ROBO4	54538	broad.mit.edu	37	11	124761626	124761626	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:124761626G>C	ENST00000306534.3	-	11	2105	c.1620C>G	c.(1618-1620)agC>agG	p.S540R	RP11-664I21.6_ENST00000524433.1_Intron|ROBO4_ENST00000533054.1_Missense_Mutation_p.S395R	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	540					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTGCTGCTGCTGCTCAGGT	0.662000													12	20					0	0	0.457914	0	0
LPO	4025	broad.mit.edu	37	17	56344747	56344747	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:56344747G>A	ENST00000262290.4	+	12	2047	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	LPO_ENST00000582328.1_Silent_p.Q494Q|LPO_ENST00000421678.2_Silent_p.Q494Q|LPO_ENST00000543544.1_Silent_p.Q518Q	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	577					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ACCTCTCACAGCCGCAGACAC	0.552000													16	60					0	0	0.539581	0	0
FAM196A	642938	broad.mit.edu	37	10	128974171	128974171	+	Silent	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:128974171G>C	ENST00000522781.1	-	4	1044	c.489C>G	c.(487-489)ggC>ggG	p.G163G	FAM196A_ENST00000424811.2_Silent_p.G163G|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	163										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCGCCCCGCGCCACATGGCC	0.552000													22	53					0	0	0.639603	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753686	54753686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:54753686G>T	ENST00000356805.4	+	2	412	c.131G>T	c.(130-132)cGc>cTc	p.R44L	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	44	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGCGGTCCCGCATCAAGGCT	0.537000													16	42					4.7546e-09	5.6989e-09	0.500413	1	0
TRAT1	50852	broad.mit.edu	37	3	108557809	108557809	+	Missense_Mutation	SNP	C	C	A	rs150919761		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:108557809C>A	ENST00000295756.6	+	3	377	c.147C>A	c.(145-147)caC>caA	p.H49Q	TRAT1_ENST00000426646.1_Missense_Mutation_p.H12Q|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	49					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAGTGACCACACCAGGTATG	0.318000													18	119					6.33239e-15	8.64421e-15	0.592651	1	0
OR2C3	81472	broad.mit.edu	37	1	247695329	247695329	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:247695329G>T	ENST00000366487.3	-	2	846	c.485C>A	c.(484-486)aCg>aAg	p.T162K	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATGGTGAGCGTGGAGCCCAC	0.557000													4	24					1.024e-07	1.18405e-07	0.184627	1	0
ZNF286B	729288	broad.mit.edu	37	17	18566461	18566461	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:18566461T>A	ENST00000545289.1	-	5	608	c.358A>T	c.(358-360)Agc>Tgc	p.S120C		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAATCCTTGCTCTGTGGTCTA	0.388000													27	45					0	0	0.750413	0	0
KMT2C	58508	broad.mit.edu	37	7	151879345	151879345	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:151879345C>G	ENST00000355193.2	-	36	5818	c.5600G>C	c.(5599-5601)aGt>aCt	p.S1867T	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1867T					lysine (K)-specific methyltransferase 2C																		CTGAGAAAGACTATCCTGGAT	0.522000													27	193					0	0	0.681144	0	0
DLC1	10395	broad.mit.edu	37	8	13357323	13357323	+	Silent	SNP	G	G	A	rs146650078		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:13357323G>A	ENST00000276297.4	-	2	667	c.258C>T	c.(256-258)gaC>gaT	p.D86D	DLC1_ENST00000511869.1_Silent_p.D86D|DLC1_ENST00000316609.5_Silent_p.D86D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	86					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.D86D(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCATTTTCGTCCACATCCT	0.443000													9	362					0	0	0.335167	0	0
ZNF460	10794	broad.mit.edu	37	19	57802666	57802666	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57802666G>A	ENST00000360338.3	+	3	1079	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	ZNF460_ENST00000537645.1_Missense_Mutation_p.V212M	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCCCTTTGTGTGCAGTGA	0.542000													30	84					0	0	0.740014	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641586	106641586	+	RNA	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106641586T>A	ENST00000390605.2	-	0	386																											TACACGGCCGTGTCGTCAGAT	0.537000													75	262					0	0	0.870114	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004401	75004401	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:75004401G>T	ENST00000373359.2	-	1	678	c.486C>A	c.(484-486)ttC>ttA	p.F162L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	162	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTGATCTGGAAACCCCGTT	0.527000													10	12					5.16669e-11	6.59495e-11	0.387290	1	0
DNAH12	201625	broad.mit.edu	37	3	57496556	57496556	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:57496556C>T	ENST00000351747.2	-	5	610	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	DNAH12_ENST00000389536.4_Missense_Mutation_p.V144M|DNAH12_ENST00000311202.6_Missense_Mutation_p.V144M	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	144	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCACTTGACACCTCATTTATG	0.438000													17	52					0	0	0.520397	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128674	150128674	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:150128674G>T	ENST00000361875.2	+	1	2553	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.V513L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	513							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCCTGCAGCCGTGCCCGCTCC	0.647000													8	55					2.17888e-05	2.3682e-05	0.335167	1	0
IREB2	3658	broad.mit.edu	37	15	78780136	78780136	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:78780136G>T	ENST00000258886.8	+	14	1920	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	591							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTTATCAGACGCAGTTTTAAA	0.313000													16	86					4.96729e-08	5.76306e-08	0.575678	1	0
NCF4	4689	broad.mit.edu	37	22	37273817	37273817	+	Silent	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:37273817G>C	ENST00000248899.6	+	10	1156	c.972G>C	c.(970-972)ctG>ctC	p.L324L	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	324					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCTGGAAGCTGCACATCACGC	0.607000													7	17					0	0	0.248553	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296541	145296541	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:145296541G>C	ENST00000342960.5	+	3	498	c.463G>C	c.(463-465)Gca>Cca	p.A155P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	155										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGTAGACTGGCACAGCACCT	0.577000													44	331					0	0	0.870114	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254946	30254946	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30254946C>G	ENST00000361644.2	+	5	1642	c.905C>G	c.(904-906)gCg>gGg	p.A302G	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A302G	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	302	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTCCCCAGTGCGTTCCAGTTC	0.502000													22	18					0	0	0.639603	0	0
SLTM	79811	broad.mit.edu	37	15	59182658	59182658	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:59182658C>T	ENST00000380516.2	-	15	1988	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R203Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	634	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCTCTCTTCGTCTACCAAA	0.403000													34	128					0	0	0.769981	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623117	21623117	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:21623117C>A	ENST00000304418.3	-	1	1105	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	356					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TTTTCCTACCCCAAACCTTTA	0.428000													15	95					4.7546e-09	5.6989e-09	0.500413	1	0
GYS2	2998	broad.mit.edu	37	12	21721901	21721901	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:21721901G>C	ENST00000261195.2	-	5	975	c.721C>G	c.(721-723)Cgg>Ggg	p.R241G		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	241					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						ATGCAGTACCGGTGGTAAATC	0.433000													24	112					0	0	0.667858	0	0
ENPP7	339221	broad.mit.edu	37	17	77709217	77709217	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:77709217C>A	ENST00000328313.5	+	3	996	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	259					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGCGACCTGGTTGAATT	0.587000													16	86					1.5739e-10	1.98323e-10	0.500413	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608996	84608996	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:84608996T>C	ENST00000344803.2	+	4	3658	c.3611T>C	c.(3610-3612)aTg>aCg	p.M1204T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AAAAATCAGATGTTGAGCCAG	0.393000													25	98					0	0	0.681144	0	0
NAMPT	10135	broad.mit.edu	37	7	105909600	105909600	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:105909600C>A	ENST00000222553.3	-	5	913	c.606_splice	c.e5+1	p.E202_splice	NAMPT_ENST00000484527.1_Intron|NAMPT_ENST00000354289.4_Splice_Site_p.E202_splice	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	202					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTTACTTACCTCTTGGGAAG	0.358000													55	67					3.93605e-18	5.65346e-18	0.870114	1	0
ANKRD17	26057	broad.mit.edu	37	4	73968234	73968234	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:73968234C>T	ENST00000358602.4	-	25	4548	c.4432G>A	c.(4432-4434)Gct>Act	p.A1478T	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1227T|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1365T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1478					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			cttttcGCAGCCAAAGCCAGC	0.348000													11	41					0	0	0.387290	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65506460	65506460	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:65506460G>A	ENST00000355045.2	-	4	1128	c.1100C>T	c.(1099-1101)gCt>gTt	p.A367V		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CAATGATTTAGCCAAATTCCG	0.433000													79	214					0	0	0.870114	0	0
NAV3	89795	broad.mit.edu	37	12	78562633	78562633	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78562633C>A	ENST00000397909.2	+	24	5141	c.4968C>A	c.(4966-4968)gaC>gaA	p.D1656E	NAV3_ENST00000228327.6_Missense_Mutation_p.D1656E|NAV3_ENST00000266692.7_Missense_Mutation_p.D1479E|NAV3_ENST00000536525.2_Missense_Mutation_p.D1656E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1656						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATGGTCCAGACCATCCTCCCA	0.378000										HNSCC(70;0.22)			27	109					6.32553e-13	8.3531e-13	0.681144	1	0
WBSCR17	64409	broad.mit.edu	37	7	70881051	70881051	+	Splice_Site	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:70881051T>C	ENST00000333538.5	+	4	1398		c.e4+2		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGCTGGCTGGTAGGTCATGAG	0.582000													8	78					0	0	0.278610	0	0
C5	727	broad.mit.edu	37	9	123776180	123776180	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:123776180G>C	ENST00000223642.1	-	17	2257	c.2228C>G	c.(2227-2229)tCt>tGt	p.S743C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	743					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCTTTATGAGAGATATTAGC	0.423000													42	125					0	0	0.859065	0	0
ALX4	60529	broad.mit.edu	37	11	44296974	44296974	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:44296974T>A	ENST00000329255.3	-	2	804	c.701A>T	c.(700-702)cAg>cTg	p.Q234L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	234					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGGGTCTTCTGGAAGACCTT	0.617000													89	220					0	0	0.870114	0	0
MED12	9968	broad.mit.edu	37	X	70340889	70340889	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:70340889G>T	ENST00000333646.6	+	5	821	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W	MED12_ENST00000374102.1_Missense_Mutation_p.G208W|MED12_ENST00000374080.3_Missense_Mutation_p.G208W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	208					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTACCGGCCAGGGCCTGCAGG	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						31	25					2.46105e-21	3.72133e-21	0.750413	1	0
KLF14	136259	broad.mit.edu	37	7	130418350	130418350	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:130418350G>C	ENST00000310992.4	-	1	538	c.511C>G	c.(511-513)Cta>Gta	p.L171V		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCTGCCCCTAGGGCCCCTCCA	0.741000													4	10					0	0	0.150653	0	0
DST	667	broad.mit.edu	37	6	56471280	56471280	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:56471280C>A	ENST00000370754.5	-	39	8046	c.8047G>T	c.(8047-8049)Gtg>Ttg	p.V2683L	DST_ENST00000446842.2_Missense_Mutation_p.V2179L|DST_ENST00000361203.3_Missense_Mutation_p.V2505L|DST_ENST00000312431.6_Missense_Mutation_p.V2505L|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V2505L			Q03001	DYST_HUMAN	dystonin	2505					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)			TGTCCATTCACCTTATCTGAG	0.373000													11	56					2.80697e-09	3.38807e-09	0.387290	1	0
AK8	158067	broad.mit.edu	37	9	135602855	135602855	+	Silent	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:135602855T>A	ENST00000298545.3	-	12	1709	c.1188A>T	c.(1186-1188)ccA>ccT	p.P396P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	396	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CCCCAGTGACTGGATCAATTC	0.473000													34	113					0	0	0.796494	0	0
CHD8	57680	broad.mit.edu	37	14	21859702	21859702	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:21859702C>T	ENST00000399982.2	-	35	7049	c.6985G>A	c.(6985-6987)Gag>Aag	p.E2329K	CHD8_ENST00000557364.1_Missense_Mutation_p.E2329K|CHD8_ENST00000430710.3_Missense_Mutation_p.E2050K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2329					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGCATCCTCACCCACCAGC	0.557000													13	35					0	0	0.411799	0	0
MROH9	80133	broad.mit.edu	37	1	170927641	170927641	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:170927641C>A	ENST00000367759.4	+	4	266	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	MROH9_ENST00000367758.3_Missense_Mutation_p.L38M	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ATACTCAGGCCTGTTAAGTAA	0.333000													30	142					7.6516e-34	1.2594e-33	0.750413	1	0
PIK3CA	5290	broad.mit.edu	37	3	178948139	178948139	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:178948139T>C	ENST00000263967.3	+	20	3068	c.2911T>C	c.(2911-2913)Tgc>Cgc	p.C971R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	971	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCCCAAGAATGCACAAAGAC	0.343000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	124					0	0	0.654019	0	0
POTEH	23784	broad.mit.edu	37	22	16287846	16287846	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:16287846C>T	ENST00000343518.6	-	1	91	c.40G>A	c.(40-42)Gtg>Atg	p.V14M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	14										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGCTTCTTCACAGAGGAGGCA	0.587000													34	70					0	0	0.819951	0	0
PTPRO	5800	broad.mit.edu	37	12	15475702	15475702	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:15475702C>A	ENST00000281171.4	+	1	372	c.42C>A	c.(40-42)ctC>ctA	p.L14L	PTPRO_ENST00000348962.2_Silent_p.L14L|PTPRO_ENST00000543886.1_Silent_p.L14L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	14						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCGCCGCCTCCTGCCTCTGC	0.741000													10	21					1.15088e-07	1.31967e-07	0.500413	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125285021	125285021	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:125285021G>A	ENST00000431078.1	+	10	1998	c.1634G>A	c.(1633-1635)aGc>aAc	p.S545N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	545					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATCTGTGTAGCATCAAAGAC	0.398000													38	120					0	0	0.840704	0	0
OR56A4	120793	broad.mit.edu	37	11	6024019	6024019	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:6024019G>A	ENST00000330728.4	-	1	405	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGGAGAGGAGGCTGAGCA	0.607000													25	85					0	0	0.706142	0	0
CCPG1	9236	broad.mit.edu	37	15	55669217	55669217	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:55669217T>C	ENST00000310958.6	-	5	682	c.384A>G	c.(382-384)gcA>gcG	p.A128A	CCPG1_ENST00000442196.3_Silent_p.A128A|CCPG1_ENST00000425574.3_Silent_p.A128A|CCPG1_ENST00000569205.1_Silent_p.A128A|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	128	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTGAACTCTGTGCTTCTTCAA	0.388000													43	108					0	0	0.834066	0	0
PDZD2	23037	broad.mit.edu	37	5	32090710	32090710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:32090710G>A	ENST00000438447.1	+	20	7544	c.7156G>A	c.(7156-7158)Ggt>Agt	p.G2386S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2386S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2386					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGCCACCCAGGTGACGCAGC	0.617000													14	52					0	0	0.479597	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573129	140573129	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140573129T>A	ENST00000239446.4	+	1	1188	c.1004T>A	c.(1003-1005)gTg>gAg	p.V335E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		335	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGTTTTAGTGGAAGTATTG	0.408000													41	80					0	0	0.840704	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478684	21478684	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:21478684C>A	ENST00000281523.2	-	5	969	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	151	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTGGTGTCCCTGCAGTACCG	0.408000													35	58					3.09479e-21	4.66933e-21	0.827153	1	0
AGBL1	123624	broad.mit.edu	37	15	87089303	87089303	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:87089303C>G	ENST00000441037.2	+	19	2713	c.2618C>G	c.(2617-2619)aCc>aGc	p.T873S	AGBL1_ENST00000389298.3_Missense_Mutation_p.T604S|AGBL1_ENST00000421325.2_Missense_Mutation_p.T873S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	873					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCAAGGAAACCTTGTGGCAA	0.463000													7	32					0	0	0.335167	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6838029	6838029	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:6838029A>G	ENST00000403107.1	+	20	2855	c.2468A>G	c.(2467-2469)aAg>aGg	p.K823R	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.K823R|RSPH10B2_ENST00000359718.3_3'UTR|CCZ1B_ENST00000316731.8_3'UTR|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.K823R|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.K823R					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAGAGGCCAAGAGACATGAC	0.483000													18	125					0	0	0.654019	0	0
GOLGA1	2800	broad.mit.edu	37	9	127670691	127670691	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:127670691T>C	ENST00000373555.4	-	12	1363	c.1030A>G	c.(1030-1032)Agc>Ggc	p.S344G		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	344						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTAGCCTGGCTGCTTCTGGCT	0.473000													33	130					0	0	0.804634	0	0
KLF7	8609	broad.mit.edu	37	2	207989096	207989096	+	Silent	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:207989096C>G	ENST00000309446.6	-	2	511	c.135G>C	c.(133-135)acG>acC	p.T45T	KLF7_ENST00000421199.1_Silent_p.T12T|KLF7_ENST00000423015.1_Silent_p.T45T|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000458272.1_Silent_p.T45T|KLF7_ENST00000412414.2_Silent_p.T17T	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	45					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TCCGGGGCTCCGTCTGTAGGT	0.557000													9	24					0	0	0.335167	0	0
PKHD1	5314	broad.mit.edu	37	6	51927386	51927386	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:51927386T>A	ENST00000371117.3	-	14	1324	c.1049A>T	c.(1048-1050)tAc>tTc	p.Y350F	PKHD1_ENST00000340994.4_Missense_Mutation_p.Y350F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	350					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCCACCTGTACCCTGGGGT	0.483000													49	118					0	0	0.870114	0	0
GLT8D1	55830	broad.mit.edu	37	3	52734476	52734476	+	Translation_Start_Site	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:52734476T>A	ENST00000407584.3	-	3	851	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	GLT8D1_ENST00000478968.2_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000266014.5_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000394783.3_Start_Codon_SNP_p.M1L|GLT8D1_ENST00000491606.1_Start_Codon_SNP_p.M1L	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	1						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGAATGACATCTTTTTCTTC	0.338000													5	115					0	0	0.184627	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413755	121413755	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:121413755T>G	ENST00000393667.3	-	13	5725	c.5615A>C	c.(5614-5616)gAa>gCa	p.E1872A	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1867A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1867					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTCTCATTTTCTAAAGTCTG	0.353000													87	340					0	0	0.870114	0	0
ADPRH	141	broad.mit.edu	37	3	119305452	119305452	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:119305452G>T	ENST00000478399.1	+	3	2024	c.619G>T	c.(619-621)Gtc>Ttc	p.V207F	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.V207F|ADPRH_ENST00000357003.3_Missense_Mutation_p.V207F|ADPRH_ENST00000478927.1_Missense_Mutation_p.V207F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	207					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AAAGTACATTGTCCAATCAGG	0.483000													36	121					6.02846e-25	9.44778e-25	0.779181	1	0
C2CD3	26005	broad.mit.edu	37	11	73753213	73753213	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:73753213T>A	ENST00000334126.7	-	29	5772	c.5546A>T	c.(5545-5547)aAc>aTc	p.N1849I	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1849I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1849						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCGGCGAATGTTCTGCACATG	0.433000													39	56					0	0	0.853193	0	0
IQGAP2	10788	broad.mit.edu	37	5	75906917	75906917	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:75906917T>C	ENST00000274364.6	+	13	1727	c.1430T>C	c.(1429-1431)cTc>cCc	p.L477P	IQGAP2_ENST00000379730.3_Missense_Mutation_p.L36P|IQGAP2_ENST00000396234.3_Missense_Mutation_p.L30P|IQGAP2_ENST00000502745.1_Missense_Mutation_p.L30P	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	477					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAACTTTGCTCCTACCTACT	0.408000													41	86					0	0	0.834066	0	0
JAK3	3718	broad.mit.edu	37	19	17949121	17949121	+	Missense_Mutation	SNP	T	T	A	rs140690573		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17949121T>A	ENST00000458235.1	-	11	1619	c.1520A>T	c.(1519-1521)cAg>cTg	p.Q507L	JAK3_ENST00000527670.1_Missense_Mutation_p.Q507L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.Q507L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	507					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q507R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGACTCAGCTGGTATTGGGA	0.547000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								94	205					0	0	0.870114	0	0
CTSS	1520	broad.mit.edu	37	1	150724474	150724474	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150724474C>A	ENST00000368985.3	-	5	670	c.410G>T	c.(409-411)gGt>gTt	p.G137V	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G87V	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	137					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCAAGCACCACAAGAACC	0.498000													21	66					3.62473e-10	4.51778e-10	0.608945	1	0
GALNT13	114805	broad.mit.edu	37	2	155102362	155102362	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:155102362G>T	ENST00000392825.3	+	7	1291	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.D242Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	242						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGATTAGTGATGATACTTT	0.363000													43	142					1.51926e-22	2.31762e-22	0.870114	1	0
RTTN	25914	broad.mit.edu	37	18	67860629	67860629	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:67860629G>A	ENST00000255674.6	-	8	1188	c.902C>T	c.(901-903)tCc>tTc	p.S301F	RTTN_ENST00000454359.1_Missense_Mutation_p.S301F|RTTN_ENST00000437017.1_Missense_Mutation_p.S301F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	301							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGGATTCTGGGAATGATGAGT	0.488000													21	69					0	0	0.608945	0	0
TTC14	151613	broad.mit.edu	37	3	180319919	180319919	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:180319919G>A	ENST00000296015.4	+	0	2					NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGTGTAACTGGTTGTGCTGTC	0.622000													7	14					0	0	0.248553	0	0
IGF1R	3480	broad.mit.edu	37	15	99456391	99456391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:99456391G>T	ENST00000268035.6	+	8	2319	c.1708G>T	c.(1708-1710)Ggg>Tgg	p.G570W	IGF1R_ENST00000558762.1_Missense_Mutation_p.G570W	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	570	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTTACTACATGGGCTGAAGCC	0.577000													29	68					6.00712e-18	8.59231e-18	0.760397	1	0
ANKLE1	126549	broad.mit.edu	37	19	17394535	17394535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17394535G>A	ENST00000394458.3	+	5	1238	c.962G>A	c.(961-963)tGg>tAg	p.W321*	ANKLE1_ENST00000404085.1_Nonsense_Mutation_p.W343*|ANKLE1_ENST00000433424.2_Nonsense_Mutation_p.W375*|ANKLE1_ENST00000598347.1_Nonsense_Mutation_p.W321*|ANKLE1_ENST00000594072.1_Nonsense_Mutation_p.W310*	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	321						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CACTGCCTGTGGGAGCACCAG	0.612000													30	123					0	0	0.779181	0	0
DDX26B	203522	broad.mit.edu	37	X	134680705	134680705	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:134680705G>T	ENST00000370752.4	+	5	842	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	170	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTTATTTGCCCTGGTGTT	0.468000													44	50					1.76056e-25	2.77813e-25	0.859065	1	0
TDRD5	163589	broad.mit.edu	37	1	179587802	179587802	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:179587802A>G	ENST00000444136.1	+	5	1150	c.900A>G	c.(898-900)aaA>aaG	p.K300K	TDRD5_ENST00000294848.8_Silent_p.K300K|TDRD5_ENST00000367614.1_Silent_p.K300K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	300	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGAACTAAAACATAAGATAA	0.294000													31	89					0	0	0.729181	0	0
E2F5	1875	broad.mit.edu	37	8	86114380	86114380	+	Splice_Site	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:86114380A>T	ENST00000418930.2	+	2	430		c.e2-1		E2F5_ENST00000519128.1_Splice_Site|E2F5_ENST00000416274.2_Splice_Site|E2F5_ENST00000521429.1_Splice_Site|E2F5_ENST00000517476.1_Splice_Site|E2F5_ENST00000256117.5_Splice_Site			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TTTCCTGAACAGGCTGCTGAT	0.348000													5	20					0	0	0.217242	0	0
SFMBT1	51460	broad.mit.edu	37	3	52977588	52977588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:52977588C>A	ENST00000394752.3	-	4	527	c.145G>T	c.(145-147)Gga>Tga	p.G49*	SFMBT1_ENST00000358080.2_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000296295.6_Nonsense_Mutation_p.G49*|SFMBT1_ENST00000394750.1_Nonsense_Mutation_p.G49*	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	49					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGAGCAAATCCATTTTGCAAA	0.433000													33	85					1.22384e-17	1.73608e-17	0.769981	1	0
TIAM2	26230	broad.mit.edu	37	6	155450864	155450864	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:155450864G>T	ENST00000461783.3	+	6	1780	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TIAM2_ENST00000529824.2_Silent_p.L169L|TIAM2_ENST00000318981.5_Silent_p.L169L|TIAM2_ENST00000456144.1_Silent_p.L169L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.L169L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	169					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGGGAAGCTGGATGGGTGTT	0.587000													17	68					2.39187e-15	3.2781e-15	0.575678	1	0
KIAA2018	205717	broad.mit.edu	37	3	113375785	113375785	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:113375785G>A	ENST00000316407.4	-	7	5154	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1582S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1582	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTAGTTGAAGGGTTTTCACAG	0.498000													43	73					0	0	0.847076	0	0
VWA3B	200403	broad.mit.edu	37	2	98851213	98851213	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:98851213C>G	ENST00000477737.1	+	17	2615	c.2411C>G	c.(2410-2412)aCt>aGt	p.T804S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	804										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCGGAGGACTGCTCTAAGT	0.532000													18	34					0	0	0.575678	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													3	36					0	0	0.150653	0	0
SCN3A	6328	broad.mit.edu	37	2	166019249	166019249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:166019249C>T	ENST00000360093.3	-	8	1275	c.784G>A	c.(784-786)Gct>Act	p.A262T	SCN3A_ENST00000409101.3_Missense_Mutation_p.A262T|SCN3A_ENST00000283254.7_Missense_Mutation_p.A262T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	262						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAATGAGAGCAAACACGCTC	0.483000													34	98					0	0	0.750413	0	0
IL12RB1	3594	broad.mit.edu	37	19	18182953	18182953	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:18182953C>A	ENST00000600835.1	-	10	1293	c.990G>T	c.(988-990)caG>caT	p.Q330H	IL12RB1_ENST00000322153.6_Missense_Mutation_p.Q330H|IL12RB1_ENST00000593993.1_Missense_Mutation_p.Q330H|IL12RB1_ENST00000430026.2_Missense_Mutation_p.Q330H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	330	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTGCCACGTCTGGTTCAGGC	0.622000													6	32					0.00116845	0.00122544	0.217242	1	0
SLC12A8	84561	broad.mit.edu	37	3	124802771	124802771	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:124802771G>T	ENST00000423114.2	-	14	2194	c.2195C>A	c.(2194-2196)tCc>tAc	p.S732Y	SLC12A8_ENST00000430155.2_Missense_Mutation_p.S504Y|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S703Y|SLC12A8_ENST00000393469.4_Missense_Mutation_p.S703Y|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S364Y			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	703					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GTTCACGAGGGAGGAGTGGTG	0.572000													4	32					0.00909568	0.00932612	0.150653	1	0
PLD5	200150	broad.mit.edu	37	1	242511469	242511469	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:242511469C>A	ENST00000427495.1	-	2	204	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	PLD5_ENST00000536534.1_Missense_Mutation_p.V89L|PLD5_ENST00000442594.2_5'UTR	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	89						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGATGTCCACGGCTGAAAAG	0.448000													35	128					6.97489e-18	9.95586e-18	0.804634	1	0
TTN	7273	broad.mit.edu	37	2	179537416	179537416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179537416G>T	ENST00000589042.1	-	153	35025	c.34801C>A	c.(34801-34803)Cct>Act	p.P11601T	TTN_ENST00000591111.1_Missense_Mutation_p.P11227T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10300T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11433	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCCTCAGGAATTTTCTTT	0.373000													6	24					1.06961e-07	1.23265e-07	0.278610	1	0
SLC2A4	6517	broad.mit.edu	37	17	7188426	7188426	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:7188426C>A	ENST00000317370.8	+	9	1308	c.1040C>A	c.(1039-1041)gCg>gAg	p.A347E	SLC2A4_ENST00000571308.1_Missense_Mutation_p.A347E|SLC2A4_ENST00000424875.2_Missense_Mutation_p.A337E	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	347					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGGAGCGGGCGGGGCGCCGG	0.667000													10	7					0.000442599	0.000470647	0.335167	1	0
FAM65B	9750	broad.mit.edu	37	6	24873954	24873954	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:24873954C>A	ENST00000259698.4	-	3	350	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	FAM65B_ENST00000540914.1_Missense_Mutation_p.G59C|FAM65B_ENST00000510784.2_Missense_Mutation_p.G93C|FAM65B_ENST00000538035.1_Missense_Mutation_p.G88C|FAM65B_ENST00000378023.4_Missense_Mutation_p.G59C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	59	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTTTTGTGGCCTAAATTGTGC	0.428000													26	107					4.26978e-12	5.57421e-12	0.654019	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603874	138603874	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:138603874C>A	ENST00000440172.1	-	2	546	c.498G>T	c.(496-498)tgG>tgT	p.W166C	KIAA1549_ENST00000422774.1_Missense_Mutation_p.W166C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.W116C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	166						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTGGAGTGGTCCAGTGAGTAT	0.498000			O	BRAF	pilocytic astrocytoma								156	175					7.08382e-60	1.19161e-59	0.870114	1	0
BAI3	577	broad.mit.edu	37	6	69653751	69653751	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:69653751T>C	ENST00000370598.1	+	6	1881	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	354	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGGTCACCATGGAGTTTATG	0.413000													51	148					0	0	0.870114	0	0
DNAJC10	54431	broad.mit.edu	37	2	183594600	183594600	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:183594600G>T	ENST00000264065.6	+	8	1074	c.659G>T	c.(658-660)aGa>aTa	p.R220I	DNAJC10_ENST00000537515.1_Missense_Mutation_p.R220I	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	220	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATGGAGACAGATCAAAGGAG	0.313000													26	106					1.22384e-17	1.73608e-17	0.769981	1	0
IGHV1-18	28468	broad.mit.edu	37	14	106641587	106641587	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106641587G>T	ENST00000390605.2	-	0	385																											ACACGGCCGTGTCGTCAGATC	0.537000													75	260					2.22156e-40	3.70978e-40	0.870114	1	0
USH2A	7399	broad.mit.edu	37	1	216373030	216373030	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:216373030C>T	ENST00000366943.2	-	17	4136	c.3750G>A	c.(3748-3750)aaG>aaA	p.K1250K	USH2A_ENST00000307340.3_Silent_p.K1250K|USH2A_ENST00000366942.3_Silent_p.K1250K|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1250	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTCTGCATCTTAGGTGGAC	0.478000										HNSCC(13;0.011)			21	80					0	0	0.575678	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381238	130381238	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:130381238G>T	ENST00000529410.1	+	12	1296	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V248L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V273L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V248L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V248L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V273L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	273					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTAGAAGGCGTGGATCCTGA	0.398000													18	64					5.35356e-11	6.82083e-11	0.639603	1	0
SI	6476	broad.mit.edu	37	3	164786974	164786974	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:164786974C>A	ENST00000264382.3	-	4	327	c.265G>T	c.(265-267)Gca>Tca	p.A89S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	89	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.A89S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCTCTCTGTGCACAAATTCCC	0.353000										HNSCC(35;0.089)			10	48					0.0383953	0.0390769	0.539581	1	0
KRBA1	84626	broad.mit.edu	37	7	149420905	149420905	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:149420905A>T	ENST00000255992.10	+	8	1252	c.853A>T	c.(853-855)Agg>Tgg	p.R285W	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.R285W|KRBA1_ENST00000319551.8_Missense_Mutation_p.R285W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	285										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCAGGACAGGCATCCCAG	0.587000													13	80					0	0	0.435327	0	0
IQUB	154865	broad.mit.edu	37	7	123104887	123104887	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:123104887C>A	ENST00000466202.1	-	10	2334	c.1758_splice	c.e10+1	p.K586_splice	IQUB_ENST00000434450.1_Splice_Site_p.K586_splice|IQUB_ENST00000324698.6_Splice_Site_p.K586_splice			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	586										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTAGAATACCTTAAGGTATT	0.303000													29	140					2.12542e-12	2.78531e-12	0.706142	1	0
STK35	140901	broad.mit.edu	37	20	2097588	2097588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:2097588G>T	ENST00000381482.3	+	3	1440	c.1169G>T	c.(1168-1170)gGg>gTg	p.G390V	STK35_ENST00000246032.3_Missense_Mutation_p.G257V|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	390	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GTCTGTGCTGGGCTGGCACCC	0.542000													13	78					2.32078e-09	2.82102e-09	0.479597	1	0
MGAM	8972	broad.mit.edu	37	7	141796147	141796147	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:141796147G>A	ENST00000475668.2	+	65	7678	c.7624G>A	c.(7624-7626)Gtg>Atg	p.V2542M	MGAM_ENST00000549489.2_Missense_Mutation_p.V1646M			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1646					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCAGACCAGGTGACATGGGA	0.572000													47	40					0	0	0.870114	0	0
RINT1	60561	broad.mit.edu	37	7	105190713	105190713	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:105190713A>G	ENST00000257700.2	+	9	1344	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	371	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTAGCTTGAATTTTCTCGGG	0.363000													166	188					0	0	0.870114	0	0
CDH17	1015	broad.mit.edu	37	8	95183180	95183180	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:95183180A>C	ENST00000027335.3	-	8	941	c.817T>G	c.(817-819)Tta>Gta	p.L273V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.L273V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	273	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTCAACTAAGGAATATTGT	0.453000													19	52					0	0	0.575678	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306180	2306180	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:2306180G>T	ENST00000290974.2	-	8	2226	c.1887C>A	c.(1885-1887)ccC>ccA	p.P629P	ZFYVE28_ENST00000511071.1_Silent_p.P599P|ZFYVE28_ENST00000515312.1_Silent_p.P559P|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	629					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						TGTCGGAAGTGGGGGCTTTGG	0.667000													36	71					6.04917e-29	9.70124e-29	0.827153	1	0
MYH2	4620	broad.mit.edu	37	17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10427956G>A	ENST00000245503.5	-	35	5386	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1668W|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1668					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572000													21	50					0	0	0.624587	0	0
GLTPD1	80772	broad.mit.edu	37	1	1263084	1263084	+	Missense_Mutation	SNP	C	C	A	rs145750452		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:1263084C>A	ENST00000343938.4	+	3	997	c.586C>A	c.(586-588)Cgt>Agt	p.R196S	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	196						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTTCATCCAGCGTGTCTACAA	0.672000													21	64					1.64113e-05	1.78938e-05	0.592651	1	0
TRAV17	28666	broad.mit.edu	37	14	22466318	22466318	+	RNA	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:22466318T>A	ENST00000390445.2	+	0	395																											AGATTAAGAGTCACGCTTGAC	0.438000													16	46					0	0	0.479597	0	0
CASP5	838	broad.mit.edu	37	11	104869720	104869720	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:104869720C>T	ENST00000393141.2	-	7	1058	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T	CASP5_ENST00000260315.3_Missense_Mutation_p.A330T|CASP5_ENST00000531367.1_Missense_Mutation_p.A188T|CASP5_ENST00000418434.1_Missense_Mutation_p.A188T|CASP5_ENST00000444749.2_Missense_Mutation_p.A272T|CASP5_ENST00000526056.1_Missense_Mutation_p.A343T|CASP5_ENST00000393139.2_3'UTR	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	330					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCCAAGGATGCTGGAGAGTCT	0.418000													26	59					0	0	0.729181	0	0
RP1	6101	broad.mit.edu	37	8	55542575	55542575	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:55542575G>T	ENST00000220676.1	+	4	6281	c.6133G>T	c.(6133-6135)Ggt>Tgt	p.G2045C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2045					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)			GTTAGTTGTGGGTAATGTGGA	0.353000													25	53					2.27525e-19	3.35917e-19	0.667858	1	0
GAS2L3	283431	broad.mit.edu	37	12	101012273	101012273	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:101012273G>C	ENST00000537247.1	+	8	1198	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	GAS2L3_ENST00000539410.1_Missense_Mutation_p.E186Q|GAS2L3_ENST00000547754.1_Missense_Mutation_p.E186Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.E186Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	186	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAAGAAATTGAGTTAGAAGA	0.423000													26	74					0	0	0.681144	0	0
DCHS2	54798	broad.mit.edu	37	4	155226280	155226280	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:155226280G>T	ENST00000357232.3	-	16	3998	c.3999C>A	c.(3997-3999)gaC>gaA	p.D1333E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1333	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTCTCTGTCAAGTATGG	0.338000													8	50					2.17888e-05	2.3682e-05	0.335167	1	0
MRRF	92399	broad.mit.edu	37	9	125084837	125084837	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:125084837G>A	ENST00000344641.3	+	7	1041	c.730G>A	c.(730-732)Gac>Aac	p.D244N	MRRF_ENST00000373729.1_Missense_Mutation_p.D200N|MRRF_ENST00000297908.3_Missense_Mutation_p.D192N|MRRF_ENST00000394315.3_Missense_Mutation_p.M190I|MRRF_ENST00000373723.4_Missense_Mutation_p.M190I	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	244					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AATGGCCGATGACACAGTGGC	0.493000													7	33					0	0	0.248553	0	0
COL6A2	1292	broad.mit.edu	37	21	47549387	47549387	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr21:47549387C>A	ENST00000357838.4	+	28	2821	c.2739C>A	c.(2737-2739)acC>acA	p.T913T	COL6A2_ENST00000397763.1_Silent_p.T913T|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCCCGAGACCGCGCTGGCCC	0.682000													4	12					0.150653	0.152202	0.150653	1	0
C7	730	broad.mit.edu	37	5	40979897	40979897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:40979897C>T	ENST00000313164.9	+	17	2595	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	746	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.H746N(1)					Ovarian(839;0.0112)				TTGCAAGATGCATGTTCTCCA	0.453000													14	53					0	0	0.479597	0	0
PJA1	64219	broad.mit.edu	37	X	68382107	68382107	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:68382107T>A	ENST00000361478.1	-	2	1352	c.975A>T	c.(973-975)aaA>aaT	p.K325N	PJA1_ENST00000374571.4_Missense_Mutation_p.K270N|PJA1_ENST00000374583.1_Missense_Mutation_p.K325N|PJA1_ENST00000374584.3_Missense_Mutation_p.K137N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	325							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCGCTTCCCGTTTGTCTTCAG	0.552000													17	18					0	0	0.500413	0	0
CDR1	1038	broad.mit.edu	37	X	139866414	139866414	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:139866414G>T	ENST00000370532.2	-	1	309	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	40	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ATGTCTTCCAGCCTACTTGTG	0.438000													50	52					4.44712e-29	7.14865e-29	0.870114	1	0
NAV3	89795	broad.mit.edu	37	12	78444555	78444555	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78444555C>A	ENST00000397909.2	+	11	2317	c.2144C>A	c.(2143-2145)aCa>aAa	p.T715K	NAV3_ENST00000228327.6_Missense_Mutation_p.T715K|NAV3_ENST00000266692.7_Missense_Mutation_p.T715K|NAV3_ENST00000536525.2_Missense_Mutation_p.T715K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	715						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTGGAGACAACATTTGAC	0.463000										HNSCC(70;0.22)			23	96					4.7796e-09	5.7189e-09	0.681144	1	0
RSPO3	84870	broad.mit.edu	37	6	127471641	127471641	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:127471641A>G	ENST00000356698.4	+	3	949	c.360A>G	c.(358-360)ttA>ttG	p.L120L	RSPO3_ENST00000368317.3_Silent_p.L120L|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	120						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GATTTTACTTACACCTTGGAA	0.368000													17	112					0	0	0.520397	0	0
NMS	129521	broad.mit.edu	37	2	101098739	101098739	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:101098739C>A	ENST00000376865.1	+	9	422	c.414_splice	c.e9-1	p.P139_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	139					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TTTTTTTCAGCCCAGGAATGG	0.423000													15	90					1.3612e-06	1.52278e-06	0.479597	1	0
CXCL12	6387	broad.mit.edu	37	10	44873324	44873324	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:44873324C>A	ENST00000395794.2	-	4	339	c.296G>T	c.(295-297)aGg>aTg	p.R99M	CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	AGCAATCACCCTCTTCCCGGC	0.607000													5	3					5.9392e-07	6.70964e-07	0.217242	1	0
ZNF440	126070	broad.mit.edu	37	19	11942379	11942379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:11942379G>T	ENST00000304060.5	+	4	552	c.388G>T	c.(388-390)Gga>Tga	p.G130*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTGACATTGGACACAAGGC	0.408000													21	221					6.20995e-33	1.01968e-32	0.870114	1	0
ITGA8	8516	broad.mit.edu	37	10	15649735	15649735	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:15649735G>T	ENST00000378076.3	-	17	2058	c.1705C>A	c.(1705-1707)Cct>Act	p.P569T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	569					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCACAAGAGGGAAGACGCGA	0.448000													64	135					2.67592e-24	4.17468e-24	0.870114	1	0
MYH2	4620	broad.mit.edu	37	17	10429159	10429159	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10429159C>T	ENST00000245503.5	-	31	4606	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1408K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1408					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTACATGTTCCTCAGCTGCC	0.483000													21	44					0	0	0.608945	0	0
ANXA3	306	broad.mit.edu	37	4	79500196	79500196	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:79500196T>C	ENST00000264908.6	+	4	498	c.119T>C	c.(118-120)aTg>aCg	p.M40T	ANXA3_ENST00000503570.2_Start_Codon_SNP_p.M1T|ANXA3_ENST00000512884.1_Start_Codon_SNP_p.M1T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	40					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGAGAAAATGCTCATCAGC	0.368000													17	30					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179588378	179588378	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179588378G>T	ENST00000589042.1	-	74	21673	c.21449C>A	c.(21448-21450)cCa>cAa	p.P7150Q	TTN_ENST00000591111.1_Missense_Mutation_p.P6833Q|TTN_ENST00000342992.6_Missense_Mutation_p.P5906Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6833	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTGCCTGGTAGTACTTC	0.433000													11	27					0.00829132	0.00856521	0.361761	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134249	91134249	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:91134249C>T	ENST00000373094.1	+	2	3855	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1004S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1004S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P1004S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1004					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTCGAGGTACCTGTGTCCGT	0.423000													44	72					0	0	0.864702	0	0
PON1	5444	broad.mit.edu	37	7	94931576	94931576	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:94931576A>T	ENST00000222381.3	-	8	1081	c.850T>A	c.(850-852)Tgc>Agc	p.C284S	PON1_ENST00000542556.1_Missense_Mutation_p.C284S	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	284					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TTGGGATGGCATCCAACCCAA	0.388000													58	59					0	0	0.870114	0	0
IL12A	3592	broad.mit.edu	37	3	159711264	159711264	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:159711264G>A	ENST00000305579.2	+	4	712	c.405G>A	c.(403-405)gaG>gaA	p.E135E	CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Silent_p.E97E|IL12A_ENST00000466512.1_Intron	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	101					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTCCAGAGAGACCTCTTTCA	0.313000													10	100					0	0	0.387290	0	0
LRP2BP	55805	broad.mit.edu	37	4	186295607	186295607	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:186295607C>T	ENST00000362004.3	-	4	1156	c.345G>A	c.(343-345)ggG>ggA	p.G115G	LRP2BP_ENST00000510776.1_Silent_p.G87G|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000328559.7_Silent_p.G113G|LRP2BP_ENST00000505916.1_Silent_p.G113G			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	113						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TATAGTCCACCCCTTTCTCCT	0.393000													34	77					0	0	0.750413	0	0
OR4A5	81318	broad.mit.edu	37	11	51411678	51411678	+	Missense_Mutation	SNP	C	C	A	rs5011055	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:51411678C>A	ENST00000319760.6	-	1	770	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACGGTACTGCCGGAGCTGCAG	0.398000													5	67					0.217242	0.218513	0.217242	1	0
C9orf41	138199	broad.mit.edu	37	9	77599914	77599914	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:77599914T>A	ENST00000376834.3	-	7	1189	c.1037A>T	c.(1036-1038)tAc>tTc	p.Y346F	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	346										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTCAAAGTGGTACAGCAGAGG	0.348000													26	69					0	0	0.667858	0	0
CD53	963	broad.mit.edu	37	1	111435056	111435056	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:111435056G>T	ENST00000271324.5	+	3	265	c.153G>T	c.(151-153)acG>acT	p.T51T	CD53_ENST00000429072.2_Silent_p.T51T	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	51					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCTCCCTCACGCTGGGCAATG	0.507000													39	105					2.75727e-19	4.04478e-19	0.804634	1	0
LRP1B	53353	broad.mit.edu	37	2	141130602	141130602	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:141130602C>A	ENST00000389484.3	-	69	11714	c.10743G>T	c.(10741-10743)ggG>ggT	p.G3581G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCATCTTCCCCATATTTGC	0.363000										TSP Lung(27;0.18)			45	183					1.00221e-16	1.39863e-16	0.870114	1	0
MME	4311	broad.mit.edu	37	3	154861232	154861232	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:154861232G>T	ENST00000460393.1	+	13	1309	c.1188_splice	c.e13-1	p.A397_splice	MME_ENST00000462745.1_Splice_Site_p.A397_splice|MME_ENST00000492661.1_Splice_Site_p.A397_splice|MME_ENST00000493237.1_Splice_Site_p.A397_splice|MME_ENST00000360490.2_Splice_Site_p.A397_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	397					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTTCCGTAGGCCCTTTATGG	0.418000													29	219					1.75199e-13	2.34052e-13	0.717897	1	0
CEACAM5	1048	broad.mit.edu	37	19	42213713	42213713	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:42213713A>T	ENST00000221992.6	+	2	293	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	CEACAM5_ENST00000405816.1_Missense_Mutation_p.Q60L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.Q60L|CEA_ENST00000598976.1_Missense_Mutation_p.Q60L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	60	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATCTGCCCCAGCATCTTTTT	0.507000													53	142					0	0	0.870114	0	0
HERC2	8924	broad.mit.edu	37	15	28388011	28388011	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:28388011T>A	ENST00000261609.7	-	75	11614	c.11506A>T	c.(11506-11508)Agg>Tgg	p.R3836W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3836					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTGCCACCCCTCACAATAGGA	0.408000													5	17					0	0	0.184627	0	0
FNDC3B	64778	broad.mit.edu	37	3	172046816	172046816	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:172046816G>T	ENST00000336824.4	+	12	1428	c.1329G>T	c.(1327-1329)ccG>ccT	p.P443P	FNDC3B_ENST00000416957.1_Silent_p.P443P|FNDC3B_ENST00000415807.2_Silent_p.P443P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	443	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCTTTGTCCGGCAATGGGGT	0.473000													29	164					2.47511e-08	2.91588e-08	0.729181	1	0
MAP2K5	5607	broad.mit.edu	37	15	67873100	67873100	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:67873100C>T	ENST00000178640.5	+	4	888	c.261C>T	c.(259-261)tcC>tcT	p.S87S	MAP2K5_ENST00000354498.5_Silent_p.S51S|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Silent_p.S87S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	87	OPR.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AGTATTATTCCACAGTAATGG	0.328000													41	136					0	0	0.847076	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906635	164906635	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:164906635C>A	ENST00000475390.1	-	2	2427	c.1984G>T	c.(1984-1986)Gtt>Ttt	p.V662F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V662F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	662						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAAAACAGAACCAGCAGGCTG	0.527000										HNSCC(40;0.11)			15	52					1.3612e-06	1.52278e-06	0.479597	1	0
PKDREJ	10343	broad.mit.edu	37	22	46656831	46656831	+	Missense_Mutation	SNP	G	G	T	rs140368137	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:46656831G>T	ENST00000253255.5	-	1	2388	c.2389C>A	c.(2389-2391)Cgc>Agc	p.R797S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	797	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATCGAAAGCGTTTATCTTTT	0.398000													32	112					1.08312e-15	1.49937e-15	0.740014	1	0
LMTK2	22853	broad.mit.edu	37	7	97822447	97822447	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:97822447T>C	ENST00000297293.5	+	11	2963	c.2670T>C	c.(2668-2670)agT>agC	p.S890S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	890					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGCGAGAGTGAGGAGACCC	0.557000													51	50					0	0	0.870114	0	0
RDH8	50700	broad.mit.edu	37	19	10129427	10129427	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:10129427C>A	ENST00000591589.1	+	3	532	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RDH8_ENST00000171214.1_Missense_Mutation_p.L95M			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	95					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TGGAATGGGCCTGGTGGGGCC	0.517000													42	245					6.4308e-24	9.98734e-24	0.870114	1	0
DEFB4A	1673	broad.mit.edu	37	8	7752250	7752250	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:7752250C>A	ENST00000302247.2	+	1	100	c.16C>A	c.(16-18)Ctc>Atc	p.L6I		NM_004942.2	NP_004933.1	O15263	DFB4A_HUMAN	defensin, beta 4A	6					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response	extracellular region				lung(1)	1						GGTCTTGTATCTCCTCTTCTC	0.527000													7	111					0.000673444	0.00071172	0.361761	1	0
CYP4F8	11283	broad.mit.edu	37	19	15739139	15739139	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:15739139G>T	ENST00000441682.2	+	0	1204							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGCCCTTCCTGACCATGTGCC	0.617000													33	120					6.05902e-23	9.32574e-23	0.788014	1	0
C7orf34	135927	broad.mit.edu	37	7	142636723	142636723	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:142636723C>T	ENST00000409607.3	+	1	121	c.80C>T	c.(79-81)cCt>cTt	p.P27L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	2						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					AGGTCCATGCCTCCCCTGGCC	0.662000													14	60					0	0	0.500413	0	0
WDR49	151790	broad.mit.edu	37	3	167322199	167322199	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:167322199C>A	ENST00000453925.2	-	2	186	c.152G>T	c.(151-153)aGt>aTt	p.S51I	WDR49_ENST00000479765.1_Missense_Mutation_p.S339I|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	173										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATCACCACACTATTTGTATT	0.358000													17	104					8.60227e-14	1.15819e-13	0.500413	1	0
HTR1E	3354	broad.mit.edu	37	6	87725859	87725859	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:87725859C>A	ENST00000305344.4	+	2	1510	c.807C>A	c.(805-807)gaC>gaA	p.D269E	HTR1E_ENST00000369584.1_Missense_Mutation_p.D269E	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	269					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCCCCTTCGACAATGATCTAG	0.502000													67	218					4.67498e-28	7.47997e-28	0.870114	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150131289	150131289	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:150131289C>A	ENST00000369124.4	+	6	1079	c.801C>A	c.(799-801)ggC>ggA	p.G267G	PLEKHO1_ENST00000025469.6_Silent_p.G233G|PLEKHO1_ENST00000369126.1_Silent_p.G84G	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	267	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGAAAGGCCGCTGCGCCT	0.647000													20	46					1.64113e-05	1.78938e-05	0.592651	1	0
FCRL2	79368	broad.mit.edu	37	1	157739772	157739772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:157739772G>A	ENST00000361516.3	-	4	527	c.479C>T	c.(478-480)cCg>cTg	p.P160L	FCRL2_ENST00000392274.3_Missense_Mutation_p.P160L|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	160	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGAGCTCCGGAGAGCTGCT	0.537000													25	86					0	0	0.706142	0	0
SLC9C1	285335	broad.mit.edu	37	3	111870716	111870716	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:111870716A>T	ENST00000305815.5	-	28	3764	c.3512T>A	c.(3511-3513)cTa>cAa	p.L1171Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L1123Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1171					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GACTTTCCTTAGGTTTATTCT	0.522000													51	109					0	0	0.870114	0	0
TMEM2	23670	broad.mit.edu	37	9	74360468	74360468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:74360468T>C	ENST00000377044.4	-	4	1039	c.500A>G	c.(499-501)gAt>gGt	p.D167G	TMEM2_ENST00000377066.5_Missense_Mutation_p.D167G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	167	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCTGGATCCATCTTTATTGTC	0.423000													27	98					0	0	0.681144	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677772	55677772	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:55677772G>T	ENST00000527223.2	-	2	152	c.151C>A	c.(151-153)Cct>Act	p.P51T	DNAAF3_ENST00000524407.2_Missense_Mutation_p.P4T|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P51T|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	4																	GAGCCGGCAGGTGTGGTCATC	0.662000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	46					2.21704e-12	2.89985e-12	0.639603	1	0
OR5L2	26338	broad.mit.edu	37	11	55594989	55594989	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55594989G>T	ENST00000378397.1	+	1	295	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGGGTGCATGGTGCAATTCTA	0.468000										HNSCC(27;0.073)			21	129					3.28513e-13	4.35485e-13	0.667858	1	0
OR2W1	26692	broad.mit.edu	37	6	29012793	29012793	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:29012793G>T	ENST00000377175.1	-	1	224	c.160C>A	c.(160-162)Cag>Aag	p.Q54K		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GTATGAAGCTGGGAATCCAGG	0.428000													38	106					1.836e-18	2.64815e-18	0.788014	1	0
DHX37	57647	broad.mit.edu	37	12	125470763	125470763	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:125470763G>A	ENST00000308736.2	-	2	253	c.155C>T	c.(154-156)cCg>cTg	p.P52L		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	52							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTTCTTCCCCGGTAGAACGAG	0.493000													50	129					0	0	0.870114	0	0
L1CAM	3897	broad.mit.edu	37	X	153134316	153134316	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:153134316C>A	ENST00000370060.1	-	12	1548	c.1359G>T	c.(1357-1359)gcG>gcT	p.A453A	L1CAM_ENST00000361699.4_Silent_p.A453A|L1CAM_ENST00000361981.3_Silent_p.A448A|L1CAM_ENST00000370055.1_Silent_p.A448A|L1CAM_ENST00000543994.1_Silent_p.A455A|L1CAM_ENST00000538883.1_Silent_p.A455A|L1CAM_ENST00000370057.3_Silent_p.A453A	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	453	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCACAGGCGCTCCGAAGG	0.632000													46	48					2.31418e-15	3.17796e-15	0.870114	1	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													3	52					0	0	0.150653	0	0
C9orf135	138255	broad.mit.edu	37	9	72459432	72459432	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:72459432G>T	ENST00000377197.3	+	2	239		c.e2-1		C9orf135_ENST00000466872.2_Intron|C9orf135_ENST00000527647.1_Splice_Site	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135							integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTTTTCTTAAGGCACCGTGAC	0.328000													23	82					3.28513e-13	4.35485e-13	0.667858	1	0
CTGF	1490	broad.mit.edu	37	6	132271472	132271472	+	Silent	SNP	G	G	A	rs139453995		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:132271472G>A	ENST00000367976.3	-	3	701	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	167	VWFC.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CCTTGGGCTCGTCACACACCC	0.632000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	160					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13876810	13876810	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:13876810T>A	ENST00000265104.4	-	22	3483	c.3379A>T	c.(3379-3381)Atc>Ttc	p.I1127F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1127	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGAGTTGATAATTGTGCTA	0.378000									Kartagener syndrome				17	82					0	0	0.539581	0	0
IGHG4	3503	broad.mit.edu	37	14	106092194	106092194	+	RNA	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106092194G>C	ENST00000390543.2	-	0	209																											TGGAGGGCACGGTCACCACGC	0.612000													22	109					0	0	0.639603	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309748	89309748	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:89309748G>T	ENST00000493819.1	-	0	139																											GATGGAGACTGGGTCAACTGG	0.458000													69	148					9.12251e-31	1.48026e-30	0.870114	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553967	140553967	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140553967G>T	ENST00000231137.3	+	1	1725	c.1551G>T	c.(1549-1551)agG>agT	p.R517S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		517	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCCCTCAGGTCCCTGGACT	0.706000													28	60					2.4375e-19	3.591e-19	0.717897	1	0
LOC100128164	100128164	broad.mit.edu	37	3	169664002	169664002	+	RNA	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:169664002C>T	ENST00000483289.2	-	0	3292				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CATGCCAGGGCTCATCCTAGT	0.498000													35	148					0	0	0.769981	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360964	105360964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:105360964G>A	ENST00000297581.2	+	2	233	c.184G>A	c.(184-186)Gct>Act	p.A62T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A62T	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	62	Poly-Ala.				osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CATAGCGGCCGCTGCCTCCTG	0.507000													49	84					0	0	0.870114	0	0
RFX6	222546	broad.mit.edu	37	6	117215197	117215197	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:117215197A>T	ENST00000332958.2	+	5	630	c.614A>T	c.(613-615)cAc>cTc	p.H205L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	205					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCATATTACCACTCCGTTTAT	0.393000													38	140					0	0	0.834066	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077657	32077657	+	RNA	SNP	C	C	G	rs144576359	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:32077657C>G	ENST00000354689.6	+	0	272				RP11-1166P10.6_ENST00000566806.1_RNA																							GCCGAGGACACGGCTGTGTAT	0.542000													81	405					0	0	0.870114	0	0
FAM27L	284123	broad.mit.edu	37	17	21825561	21825561	+	RNA	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:21825561C>A	ENST00000426869.3	+	0	265					NR_028336.1				family with sequence similarity 27-like									p.R21W(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		caggcctgcccggagggtgtt	0.632000													14	108					3.27435e-08	3.83774e-08	0.457914	1	0
ZNF676	163223	broad.mit.edu	37	19	22363057	22363057	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22363057T>C	ENST00000397121.2	-	3	1779	c.1462A>G	c.(1462-1464)Acg>Gcg	p.T488A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTGAGAACGTACTAAAGCCT	0.413000													39	128					0	0	0.804634	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229949	140229949	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140229949C>T	ENST00000378122.3	+	1	2593	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.R623R|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.667000													18	50					0	0	0.557998	0	0
ADCY2	108	broad.mit.edu	37	5	7826861	7826861	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:7826861G>T	ENST00000338316.4	+	25	3242	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H	ADCY2_ENST00000537121.1_Missense_Mutation_p.Q871H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1051					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTCCTGCAGACCCTCGGAT	0.493000													23	105					4.54149e-19	6.61979e-19	0.624587	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679932	75679932	+	RNA	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:75679932G>A	ENST00000408868.1	+	0	19					NR_031714.1																						GGTGCATGAAGCCTGGTCCTG	0.557000													4	79					0	0	0.278610	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717318	13717318	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:13717318G>T	ENST00000279593.3	-	13	3063	c.2854C>A	c.(2854-2856)Ccg>Acg	p.P952T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	952					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACAGGGCGGGTTGTTGTAG	0.542000													40	94					8.16904e-11	1.03696e-10	0.834066	1	0
GPR98	84059	broad.mit.edu	37	5	89933675	89933675	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:89933675T>C	ENST00000405460.2	+	11	2246	c.2150T>C	c.(2149-2151)tTa>tCa	p.L717S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	717	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTTTGTTTTTATCTGGGCAA	0.423000													29	52					0	0	0.729181	0	0
PABPC5	140886	broad.mit.edu	37	X	90691163	90691163	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:90691163C>A	ENST00000312600.3	+	2	801	c.587C>A	c.(586-588)gCa>gAa	p.A196E	PABPC5_ENST00000373105.1_Missense_Mutation_p.A32E	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	196						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGGGATAGAGCAACTTTCACC	0.458000													20	22					1.56452e-12	2.05418e-12	0.557998	1	0
AKAP9	10142	broad.mit.edu	37	7	91730192	91730192	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:91730192G>C	ENST00000359028.2	+	45	11156	c.10931G>C	c.(10930-10932)gGt>gCt	p.G3644A	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3590A|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3640A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3644					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCATTGAATGGTGGTGCCAAC	0.393000			T	BRAF	papillary thyroid								109	128					0	0	0.870114	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735898	55735898	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55735898G>A	ENST00000312345.2	-	1	92	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCATCCAGTGGAGATTGGGAA	0.338000													4	75					0	0	0.184627	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987805	182987805	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:182987805C>T	ENST00000326505.3	+	2	749	c.219C>T	c.(217-219)taC>taT	p.Y73Y	B3GNT5_ENST00000465010.1_Silent_p.Y73Y|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Silent_p.Y73Y|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	73					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCCTCGCTACCAATACTTGA	0.418000													39	159					0	0	0.804634	0	0
TRPC3	7222	broad.mit.edu	37	4	122854037	122854037	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:122854037G>T	ENST00000264811.5	-	1	575	c.157C>A	c.(157-159)Cca>Aca	p.P53T	TRPC3_ENST00000513531.1_Missense_Mutation_p.P53T|TRPC3_ENST00000379645.3_Missense_Mutation_p.P126T	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	41					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCACCACTGGGATGTTGCCG	0.647000													7	65					0.0381472	0.0388819	0.278610	1	0
OR9G4	283189	broad.mit.edu	37	11	56510975	56510975	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56510975T>C	ENST00000302957.3	-	1	312	c.313A>G	c.(313-315)Aag>Gag	p.K105E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAATGCGCTTATCTTCTGAG	0.458000													6	125					0	0	0.217242	0	0
MYO1G	64005	broad.mit.edu	37	7	45004594	45004594	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:45004594G>A	ENST00000258787.7	-	18	2612	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	826						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGTCCTGACGAAGCCCTTGC	0.677000													31	98					0	0	0.750413	0	0
ZNF451	26036	broad.mit.edu	37	6	57012801	57012801	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:57012801C>T	ENST00000370706.4	+	10	2162	c.1918C>T	c.(1918-1920)Cac>Tac	p.H640Y	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H640Y|RP11-203B9.4_ENST00000586668.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGCTGTGCTCACTGCAGAAA	0.398000													31	105					0	0	0.840704	0	0
USP26	83844	broad.mit.edu	37	X	132162179	132162179	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:132162179C>G	ENST00000511190.1	-	6	539	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	USP26_ENST00000406273.1_Missense_Mutation_p.E24Q|USP26_ENST00000370832.1_Missense_Mutation_p.E24Q	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	24					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATGAATGCTTCTTTTGACTTA	0.358000													37	37					0	0	0.812448	0	0
ZNF467	168544	broad.mit.edu	37	7	149462101	149462101	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:149462101C>T	ENST00000302017.3	-	5	1903	c.1490G>A	c.(1489-1491)aGc>aAc	p.S497N	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGACTTGCGGCTGAAGCGGCG	0.716000													8	19					0	0	0.278610	0	0
IGHG3	3502	broad.mit.edu	37	14	106236309	106236309	+	RNA	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106236309C>A	ENST00000390551.2	-	0	494																											GACGGTCCTCCCAGGAGTTCA	0.602000													25	43					3.7963e-18	5.46414e-18	0.654019	1	0
RIMS2	9699	broad.mit.edu	37	8	104897854	104897854	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:104897854C>T	ENST00000507740.1	+	2	687	c.451C>T	c.(451-453)Cca>Tca	p.P151S	RIMS2_ENST00000436393.2_Missense_Mutation_p.P121S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P151S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.P343S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	374	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)			GGCCCGTTATCCAGTAAAGCC	0.478000										HNSCC(12;0.0054)			15	30					0	0	0.457914	0	0
POLE	5426	broad.mit.edu	37	12	133241050	133241050	+	Splice_Site	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:133241050T>A	ENST00000320574.5	-	22	2512		c.e22-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAGCGAGCCCTGAGAGGACAC	0.602000								DNA polymerases (catalytic subunits)					16	37					0	0	0.500413	0	0
AGMO	392636	broad.mit.edu	37	7	15430298	15430298	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:15430298G>C	ENST00000342526.3	-	8	989	c.820C>G	c.(820-822)Cag>Gag	p.Q274E		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	274					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TATGTTACCTGCACTTTGATT	0.269000													30	136					0	0	0.717897	0	0
DLX5	1749	broad.mit.edu	37	7	96650323	96650323	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:96650323C>A	ENST00000222598.4	-	3	1068	c.595G>T	c.(595-597)Ggg>Tgg	p.G199W	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	199					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCATCTCCCCGTTTTTCATG	0.572000													16	96					5.35267e-07	6.06694e-07	0.557998	1	0
COL8A1	1295	broad.mit.edu	37	3	99509677	99509677	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:99509677T>C	ENST00000261037.3	+	4	531	c.151T>C	c.(151-153)Tac>Cac	p.Y51H	COL8A1_ENST00000273342.4_Missense_Mutation_p.Y51H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	51	Nonhelical region (NC2).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATTCCACAATACCAGCCCCT	0.537000													19	74					0	0	0.557998	0	0
SBK2	646643	broad.mit.edu	37	19	56042591	56042591	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:56042591A>G	ENST00000413299.1	-	3	412	c.375T>C	c.(373-375)atT>atC	p.I125I	SBK2_ENST00000344158.3_Silent_p.I125I	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	125	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACTCGATGCCAATGCCGTAGG	0.652000													10	33					0	0	0.361761	0	0
STAB2	55576	broad.mit.edu	37	12	104044339	104044339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:104044339G>T	ENST00000388887.2	+	11	1444	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	414	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACAGACAAGGGACTGAAAGG	0.423000													9	31					2.74318e-10	3.43147e-10	0.335167	1	0
TPO	7173	broad.mit.edu	37	2	1459848	1459848	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:1459848G>T	ENST00000345913.4	+	7	704	c.612_splice	c.e7-1	p.V205_splice	TPO_ENST00000382198.1_Splice_Site_p.V205_splice|TPO_ENST00000382201.3_Splice_Site_p.V205_splice|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Splice_Site_p.V205_splice|TPO_ENST00000337415.3_Splice_Site_p.V205_splice|TPO_ENST00000329066.4_Splice_Site_p.V205_splice|TPO_ENST00000346956.3_Splice_Site_p.V205_splice	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	205					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCCTACCCAGGTCCGGGAGGT	0.493000													7	30					0.00198382	0.00207427	0.248553	1	0
AGAP3	116988	broad.mit.edu	37	7	150817174	150817174	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:150817174C>G	ENST00000397238.2	+	8	1070	c.1070C>G	c.(1069-1071)gCc>gGc	p.A357G	AGAP3_ENST00000463381.1_Missense_Mutation_p.A129G|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Missense_Mutation_p.A537G|AGAP3_ENST00000473312.1_Missense_Mutation_p.A357G	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	321	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCATCGCTGCCTCCTCCACC	0.667000													3	64					0	0	0.150653	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176058	140176058	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140176058G>T	ENST00000526136.1	+	1	1509	c.1509G>T	c.(1507-1509)gcG>gcT	p.A503A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.A503A|PCDHA2_ENST00000520672.2_Silent_p.A503A	NM_018905.2	NP_061728.1												p.A503A(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.677000													17	33					5.35267e-07	6.06694e-07	0.557998	1	0
MYO6	4646	broad.mit.edu	37	6	76624544	76624544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:76624544G>T	ENST00000369981.3	+	35	3955	c.3676G>T	c.(3676-3678)Gag>Tag	p.E1226*	MYO6_ENST00000369985.4_Nonsense_Mutation_p.E1202*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.E1193*|MYO6_ENST00000369977.3_Nonsense_Mutation_p.E1225*			Q9UM54	MYO6_HUMAN	myosin VI	1234					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGACGACATGGAGATGTGTGA	0.448000													11	60					2.80697e-09	3.38807e-09	0.387290	1	0
KMT2B	9757	broad.mit.edu	37	19	36217232	36217232	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:36217232G>T	ENST00000420124.1	+	14	3981	c.3981G>T	c.(3979-3981)agG>agT	p.R1327S	WBP7_ENST00000222270.7_Missense_Mutation_p.R1327S|KMT2B_ENST00000607650.1_RNA																							TCTGCCCCAGGTGCACCCAGC	0.592000													13	45					1.5842e-08	1.87595e-08	0.435327	1	0
GPC5	2262	broad.mit.edu	37	13	92345593	92345593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:92345593G>A	ENST00000377067.3	+	3	850	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	160						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTAATCCTGAAGAATTTGT	0.448000													45	99					0	0	0.870114	0	0
INPP5B	3633	broad.mit.edu	37	1	38397463	38397463	+	Silent	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:38397463T>G	ENST00000373023.2	-	7	747	c.654A>C	c.(652-654)gcA>gcC	p.A218A	INPP5B_ENST00000373026.1_Silent_p.A218A|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373021.1_Silent_p.A218A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCCCCCGTGTGCCCGCTCCA	0.692000													19	23					0	0	0.539581	0	0
PROL1	58503	broad.mit.edu	37	4	71275727	71275727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:71275727C>T	ENST00000399575.2	+	3	856	c.682C>T	c.(682-684)Caa>Taa	p.Q228*		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	228	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACTTCCAACCAAACTATATT	0.408000													26	68					0	0	0.681144	0	0
PDILT	204474	broad.mit.edu	37	16	20410587	20410587	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:20410587G>T	ENST00000302451.4	-	2	284	c.36C>A	c.(34-36)gcC>gcA	p.A12A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	12					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACACAAGCGGCCACCAGCA	0.592000													15	103					5.01169e-05	5.396e-05	0.520397	1	0
TAAR1	134864	broad.mit.edu	37	6	132966320	132966320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:132966320G>T	ENST00000275216.1	-	1	822	c.823C>A	c.(823-825)Cct>Act	p.P275T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	275						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGAAGAAAAGGGTCCATGACT	0.368000													21	95					1.50039e-11	1.94401e-11	0.608945	1	0
NRXN3	9369	broad.mit.edu	37	14	79175791	79175791	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:79175791C>A	ENST00000554719.1	+	4	825	c.334C>A	c.(334-336)Ctc>Atc	p.L112I	NRXN3_ENST00000335750.5_Missense_Mutation_p.L112I|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGCCTGATCCTCTTCACTCA	0.517000													54	127					1.87854e-15	2.58488e-15	0.870114	1	0
NLRC3	197358	broad.mit.edu	37	16	3614575	3614575	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:3614575G>T	ENST00000301749.7	-	0	768				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_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						CCAGGGCGACGGTCCTGGCGG	0.706000													12	25					1.05317e-09	1.29853e-09	0.457914	1	0
MNDA	4332	broad.mit.edu	37	1	158815619	158815619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:158815619C>A	ENST00000368141.4	+	5	1074	c.813C>A	c.(811-813)taC>taA	p.Y271*		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	271	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TATCTGATTACTCTGAATGTA	0.343000													13	67					1.49906e-05	1.63967e-05	0.457914	1	0
MYOCD	93649	broad.mit.edu	37	17	12649298	12649298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:12649298C>T	ENST00000425538.1	+	9	1234	c.1034C>T	c.(1033-1035)cCc>cTc	p.P345L	MYOCD_ENST00000343344.4_Missense_Mutation_p.P345L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P249L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	345					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCAATACCCCCTTGTCTCCT	0.423000													76	146					0	0	0.870114	0	0
CCP110	9738	broad.mit.edu	37	16	19557743	19557743	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:19557743A>C	ENST00000396212.2	+	13	3223	c.2787A>C	c.(2785-2787)gaA>gaC	p.E929D	CCP110_ENST00000396208.2_Missense_Mutation_p.E929D|CCP110_ENST00000381396.5_Missense_Mutation_p.E929D	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	929					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GAGCTGCTGAAATGGGAATGC	0.303000													18	44					0	0	0.557998	0	0
PSMA2	5683	broad.mit.edu	37	7	42966149	42966149	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:42966149C>A	ENST00000442788.1	-	3	252	c.237G>T	c.(235-237)atG>atT	p.M79I	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000223321.4_Missense_Mutation_p.M79I|PSMA2_ENST00000538645.1_Start_Codon_SNP_p.M1I			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AATCGGGGCCCATGCCACTGT	0.368000													26	71					2.48779e-11	3.2173e-11	0.693898	1	0
SCGN	10590	broad.mit.edu	37	6	25665232	25665232	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:25665232C>A	ENST00000377961.2	+	4	476	c.308C>A	c.(307-309)cCa>cAa	p.P103Q	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	103						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGAAAACCCACTGGACAGC	0.493000													17	70					4.96729e-08	5.76306e-08	0.575678	1	0
SEL1L2	80343	broad.mit.edu	37	20	13868594	13868594	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:13868594C>A	ENST00000284951.5	-	7	731	c.657G>T	c.(655-657)atG>atT	p.M219I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M219I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	219						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAACCAAAATCATCTGGGACA	0.368000													17	119					2.94398e-08	3.46232e-08	0.557998	1	0
ZNF610	162963	broad.mit.edu	37	19	52869373	52869373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:52869373G>T	ENST00000601151.1	+	5	1065	c.613G>T	c.(613-615)Gta>Tta	p.V205L	ZNF610_ENST00000403906.3_Missense_Mutation_p.V248L|ZNF610_ENST00000327920.8_Missense_Mutation_p.V248L|ZNF610_ENST00000321287.8_Missense_Mutation_p.V248L	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCACACCTTGTAGAACATTG	0.403000													24	56					9.57634e-11	1.21336e-10	0.654019	1	0
FAM150A	389658	broad.mit.edu	37	8	53451006	53451006	+	Silent	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:53451006G>C	ENST00000358543.4	-	4	637	c.387C>G	c.(385-387)acC>acG	p.T129T	FAM150A_ENST00000523939.1_Intron	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	129						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGTTTTGCTAGGTCTGGGAGC	0.289000													15	25					0	0	0.539581	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250827	140250827	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140250827G>T	ENST00000398640.2	+	1	2139	c.2139G>T	c.(2137-2139)acG>acT	p.T713T	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTACTCACGCTGCTGCTGT	0.687000													12	30					1.08611e-07	1.24957e-07	0.387290	1	0
GPR17	2840	broad.mit.edu	37	2	128408390	128408390	+	Silent	SNP	G	G	A	rs145234598		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:128408390G>A	ENST00000544369.1	+	4	776	c.165G>A	c.(163-165)acG>acA	p.T55T	LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.T55T|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000272644.3_Silent_p.T55T|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	55						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gccaggagacgccactggaga	0.547000											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	90					0	0	0.769981	0	0
ZNF595	152687	broad.mit.edu	37	4	59410	59410	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:59410G>T	ENST00000509152.2	+	2	276	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	ZNF595_ENST00000526473.2_Missense_Mutation_p.D31Y|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTTGTATAGAGATGTGATGTT	0.423000													37	831					5.71845e-15	7.82166e-15	0.812448	1	0
TRHDE	29953	broad.mit.edu	37	12	72956721	72956721	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:72956721T>C	ENST00000261180.4	+	9	1904	c.1808T>C	c.(1807-1809)tTg>tCg	p.L603S	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	603					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCACCATCTTGGGAAACACA	0.338000													60	168					0	0	0.870114	0	0
HTR3E	285242	broad.mit.edu	37	3	183824076	183824076	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:183824076C>A	ENST00000415389.2	+	8	1552	c.1086C>A	c.(1084-1086)ccC>ccA	p.P362P	HTR3E_ENST00000335304.2_Silent_p.P377P|HTR3E_ENST00000425359.2_Silent_p.P347P|HTR3E_ENST00000436361.2_Silent_p.P362P|HTR3E_ENST00000440596.2_Silent_p.P388P	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	362						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GATGCTGTCCCACTGCGCCCC	0.662000													12	60					0.000978159	0.00102901	0.387290	1	0
GAREM	64762	broad.mit.edu	37	18	29848468	29848468	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:29848468G>A	ENST00000399218.4	-	6	2049	c.1994C>T	c.(1993-1995)cCa>cTa	p.P665L	GAREM_ENST00000269209.6_Missense_Mutation_p.P666L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AAAAGGTGCTGGGCAGTTTCT	0.532000													28	76					0	0	0.706142	0	0
SLC40A1	30061	broad.mit.edu	37	2	190430079	190430079	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:190430079C>A	ENST00000261024.2	-	6	1187		c.e6+1			NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1						anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GTTCAGTTTACCTTTGTGTAA	0.368000													23	49					1.85244e-09	2.25972e-09	0.654019	1	0
HBP1	26959	broad.mit.edu	37	7	106822945	106822945	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:106822945A>G	ENST00000222574.4	+	3	483	c.297A>G	c.(295-297)ccA>ccG	p.P99P	HBP1_ENST00000485846.1_Silent_p.P99P|HBP1_ENST00000468410.1_Silent_p.P99P	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	99					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAGACATACCAGAAACTACTT	0.423000													49	71					0	0	0.870114	0	0
USP29	57663	broad.mit.edu	37	19	57641829	57641829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:57641829G>T	ENST00000254181.4	+	4	2240	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E596*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	596					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTACCCGTTGAACCAGACAA	0.488000													19	48					5.3912e-06	5.93464e-06	0.539581	1	0
OR5H14	403273	broad.mit.edu	37	3	97868307	97868307	+	Silent	SNP	C	C	A	rs146669592		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:97868307C>A	ENST00000437310.1	+	1	138	c.78C>A	c.(76-78)ccC>ccA	p.P26P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAAATACCCCTGTTCCTGG	0.418000													162	224					1.8242e-84	3.0761e-84	0.870114	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12884844	12884844	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:12884844C>T	ENST00000535591.1	-	4	1462	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	423										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AATGACCTGTCGCCATGGTCA	0.468000													6	211					0	0	0.278610	0	0
CABP5	56344	broad.mit.edu	37	19	48543892	48543892	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:48543892T>C	ENST00000293255.2	-	3	338	c.208A>G	c.(208-210)Att>Gtt	p.I70V		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	70	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CCGAGCTCAATCAGTTCCATC	0.527000													18	91					0	0	0.592651	0	0
MAP2K6	5608	broad.mit.edu	37	17	67516411	67516411	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:67516411G>T	ENST00000590474.1	+	6	654	c.366_splice	c.e6-1	p.G123_splice	MAP2K6_ENST00000589647.1_Splice_Site_p.G67_splice	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	123	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGGTCTCCAGGGTGATGTGTG	0.343000													26	53					1.5548e-18	2.24727e-18	0.693898	1	0
IQCG	84223	broad.mit.edu	37	3	197665493	197665493	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:197665493C>T	ENST00000265239.6	-	5	865	c.441G>A	c.(439-441)caG>caA	p.Q147Q	IQCG_ENST00000455191.1_Silent_p.Q147Q|IQCG_ENST00000453254.1_Silent_p.Q147Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	147										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		AGACAAGATCCTGCATTTTGT	0.433000													120	654					0	0	0.870114	0	0
UNC80	285175	broad.mit.edu	37	2	210658494	210658494	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:210658494G>T	ENST00000439458.1	+	7	929	c.849G>T	c.(847-849)aaG>aaT	p.K283N	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.K283N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	283						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCTCACCCAAGGCCACCATTT	0.463000													35	75					2.54651e-27	4.05555e-27	0.827153	1	0
SLC6A11	6538	broad.mit.edu	37	3	10861414	10861414	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:10861414C>G	ENST00000254488.2	+	3	475	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	SLC6A11_ENST00000454147.1_Missense_Mutation_p.Q137E	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	137					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CTATGCAACACAGGTGATTGA	0.448000													48	112					0	0	0.870114	0	0
TMEM135	65084	broad.mit.edu	37	11	87013387	87013387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:87013387G>A	ENST00000340353.7	+	7	737	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMEM135_ENST00000305494.5_Missense_Mutation_p.A201T|TMEM135_ENST00000535167.1_Missense_Mutation_p.A62T|TMEM135_ENST00000532959.1_Missense_Mutation_p.A72T	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	201						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCACCAGAGGCAGCATATGC	0.378000													25	57					0	0	0.639603	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473293	74473293	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:74473293G>A	ENST00000591885.1	-	8	1439	c.889C>T	c.(889-891)Cct>Tct	p.P297S	RHBDF2_ENST00000313080.4_Missense_Mutation_p.P326S|RHBDF2_ENST00000389760.4_Missense_Mutation_p.P297S			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	326					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGGGAGACAGGGGAGGCTGAG	0.632000													5	11					0	0	0.248553	0	0
MMP10	4319	broad.mit.edu	37	11	102646043	102646043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:102646043C>T	ENST00000279441.4	-	7	978	c.942G>A	c.(940-942)tgG>tgA	p.W314*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	314	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GGGATCTTCGCCAAAAATATC	0.328000													4	57					0	0	0.150653	0	0
GLP2R	9340	broad.mit.edu	37	17	9792733	9792733	+	Missense_Mutation	SNP	G	G	T	rs143908746	byFrequency	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:9792733G>T	ENST00000262441.5	+	13	1886	c.1373G>T	c.(1372-1374)cGc>cTc	p.R458L	GLP2R_ENST00000574745.1_Missense_Mutation_p.R278L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	458					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTGCTAGCCCGCCACTCAGGC	0.562000													16	31					1.37285e-15	1.89663e-15	0.500413	1	0
KIF26B	55083	broad.mit.edu	37	1	245850938	245850938	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:245850938C>G	ENST00000366518.4	+	9	3614	c.3510C>G	c.(3508-3510)gaC>gaG	p.D1170E	KIF26B_ENST00000407071.2_Missense_Mutation_p.D1551E			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1551					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCCGGACAGCCTCTCCT	0.662000													3	7					0	0	0.150653	0	0
PARP2	10038	broad.mit.edu	37	14	20818708	20818708	+	Missense_Mutation	SNP	C	C	A	rs139090502	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:20818708C>A	ENST00000527915.1	+	5	392	c.387C>A	c.(385-387)aaC>aaA	p.N129K	PARP2_ENST00000429687.3_Missense_Mutation_p.N116K|PARP2_ENST00000250416.5_Missense_Mutation_p.N129K			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	129					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAACAACAACAAGTACTATC	0.363000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					19	99					1.00905e-13	1.35591e-13	0.575678	1	0
GPR133	283383	broad.mit.edu	37	12	131621519	131621519	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:131621519G>T	ENST00000261654.5	+	23	2955	c.2394_splice	c.e23-1	p.G799_splice	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Splice_Site_p.G831_splice|GPR133_ENST00000376682.4_Splice_Site_p.G485_splice|GPR133_ENST00000543617.1_Splice_Site_p.G318_splice	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	799					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532000													19	85					1.85244e-09	2.25972e-09	0.654019	1	0
TXNL1	9352	broad.mit.edu	37	18	54293689	54293689	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:54293689C>A	ENST00000217515.6	-	2	303		c.e2-1		TXNL1_ENST00000540155.1_Splice_Site|TXNL1_ENST00000590954.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGGCCCACACCTGTTAGAAAA	0.363000													40	120					1.60099e-16	2.22971e-16	0.804634	1	0
FRG2B	441581	broad.mit.edu	37	10	135438781	135438781	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:135438781T>C	ENST00000443774.1	-	4	711	c.662A>G	c.(661-663)cAg>cGg	p.Q221R	FRG2B_ENST00000425520.1_Missense_Mutation_p.Q220R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	220						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCTGCACCTGGGCACACAG	0.597000													10	21					0	0	0.479597	0	0
GALNT13	114805	broad.mit.edu	37	2	155158090	155158090	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:155158090A>T	ENST00000392825.3	+	9	1711	c.1144A>T	c.(1144-1146)Atc>Ttc	p.I382F	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Missense_Mutation_p.I382F	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TTTCTTCTACATCATATCCCC	0.353000													40	136					0	0	0.819951	0	0
TTN	7273	broad.mit.edu	37	2	179437412	179437412	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179437412G>T	ENST00000589042.1	-	326	73671	c.73447C>A	c.(73447-73449)Ctg>Atg	p.L24483M	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L22842M|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L21915M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15543M|TTN_ENST00000460472.2_Missense_Mutation_p.L15418M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L15610M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22842	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATAAGCAGGGTGTAAGAG	0.428000													38	97					4.32679e-17	6.08759e-17	0.827153	1	0
LAMA2	3908	broad.mit.edu	37	6	129371138	129371138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:129371138C>A	ENST00000421865.2	+	2	237	c.188C>A	c.(187-189)cCt>cAt	p.P63H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	63	Laminin N-terminal.				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)		GAAAAAGGACCTGAAATGTAC	0.448000													28	82					1.12875e-08	1.34125e-08	0.706142	1	0
MUC16	94025	broad.mit.edu	37	19	9088915	9088915	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:9088915C>T	ENST00000397910.4	-	1	3103	c.2900G>A	c.(2899-2901)tGg>tAg	p.W967*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	967	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCTCTGGCCAAGTTGTGCT	0.468000													61	235					0	0	0.870114	0	0
SVEP1	79987	broad.mit.edu	37	9	113261433	113261433	+	Silent	SNP	C	C	T	rs3737156	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:113261433C>T	ENST00000401783.2	-	7	1905	c.1569G>A	c.(1567-1569)acG>acA	p.T523T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.T523T|SVEP1_ENST00000374461.1_Silent_p.T500T|SVEP1_ENST00000374469.1_Silent_p.T500T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	523	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATAGCAGATCGTCCCAAATT	0.488000													18	44					0	0	0.557998	0	0
POLR3B	55703	broad.mit.edu	37	12	106786921	106786921	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:106786921C>T	ENST00000228347.4	+	10	1058	c.836C>T	c.(835-837)aCa>aTa	p.T279I	POLR3B_ENST00000539066.1_Missense_Mutation_p.T221I	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	279					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGATTTTCACACAGATGCAG	0.458000													73	188					0	0	0.870114	0	0
SAMD7	344658	broad.mit.edu	37	3	169639112	169639112	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:169639112G>A	ENST00000428432.2	+	4	586	c.197G>A	c.(196-198)aGt>aAt	p.S66N	SAMD7_ENST00000335556.3_Missense_Mutation_p.S66N	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	66										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGTTGTCCAGTCGGATCTAC	0.438000													35	185					0	0	0.788014	0	0
MPPE1	65258	broad.mit.edu	37	18	11888679	11888679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:11888679C>T	ENST00000588072.1	-	6	1779	c.558G>A	c.(556-558)tgG>tgA	p.W186*	MPPE1_ENST00000309976.9_Nonsense_Mutation_p.W186*|MPPE1_ENST00000399978.2_Nonsense_Mutation_p.W186*|MPPE1_ENST00000344987.7_Nonsense_Mutation_p.W186*|MPPE1_ENST00000317235.7_Nonsense_Mutation_p.W186*	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	186					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TAATGCCTTTCCAAGAAAACA	0.353000													9	31					0	0	0.335167	0	0
TTC14	151613	broad.mit.edu	37	3	180321002	180321002	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:180321002G>T	ENST00000412756.2	+	3	446	c.377G>T	c.(376-378)gGt>gTt	p.G126V	TTC14_ENST00000296015.4_Missense_Mutation_p.G126V|TTC14_ENST00000382584.4_Missense_Mutation_p.G126V	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	126	S1 motif.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGCGTGGTGATATAGTG	0.378000													43	245					4.67007e-22	7.0771e-22	0.840704	1	0
ZNF676	163223	broad.mit.edu	37	19	22363257	22363257	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22363257T>G	ENST00000397121.2	-	3	1579	c.1262A>C	c.(1261-1263)tAc>tCc	p.Y421S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCACACTTGTAGGGTTTCTC	0.433000													41	141					0	0	0.864702	0	0
SYT4	6860	broad.mit.edu	37	18	40857290	40857290	+	Translation_Start_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:40857290C>A	ENST00000255224.3	-	0	325				SYT4_ENST00000590752.1_De_novo_Start_InFrame|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV							cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAAAACTGCCTGGCTGGATT	0.552000													13	58					2.27111e-07	2.59125e-07	0.411799	1	0
AP4E1	23431	broad.mit.edu	37	15	51221213	51221213	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:51221213G>T	ENST00000261842.5	+	6	656	c.550G>T	c.(550-552)Gta>Tta	p.V184L	AP4E1_ENST00000560508.1_Missense_Mutation_p.V109L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	184					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CAGGGAGATTGTACGAAGAAA	0.328000													16	58					0.0332995	0.0339912	0.520397	1	0
PABPC5	140886	broad.mit.edu	37	X	90691137	90691137	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:90691137G>T	ENST00000312600.3	+	2	775	c.561G>T	c.(559-561)gcG>gcT	p.A187A	PABPC5_ENST00000373105.1_Silent_p.A23A	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	187						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAGAGCGGGCGGCTGAGGTCA	0.493000													21	12					8.34094e-07	9.36144e-07	0.575678	1	0
RANBP17	64901	broad.mit.edu	37	5	170720913	170720913	+	Silent	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:170720913T>A	ENST00000523189.1	+	26	3134	c.2970T>A	c.(2968-2970)atT>atA	p.I990I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	990					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAACACCATTGTCTTTGAAG	0.488000			T	TRD@	ALL								61	137					0	0	0.870114	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242223	18242223	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:18242223G>T	ENST00000377369.2	+	2	291	c.18G>T	c.(16-18)aaG>aaT	p.K6N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.K6N|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K6N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	6					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCGGACAAAGCTCTCAGTAT	0.493000													22	67					2.89027e-11	3.72379e-11	0.624587	1	0
OR4D10	390197	broad.mit.edu	37	11	59245402	59245402	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:59245402C>A	ENST00000530162.1	+	1	557	c.500C>A	c.(499-501)cCt>cAt	p.P167H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCACTCCCTTTCTGCGGA	0.493000													7	145					5.18039e-06	5.73008e-06	0.278610	1	0
GPBAR1	151306	broad.mit.edu	37	2	219127783	219127783	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:219127783G>T	ENST00000522678.1	+	2	1204	c.336G>T	c.(334-336)atG>atT	p.M112I	GPBAR1_ENST00000519574.1_Missense_Mutation_p.M112I|GPBAR1_ENST00000521462.1_Missense_Mutation_p.M112I|GPBAR1_ENST00000479077.1_Missense_Mutation_p.M112I	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	112						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGCTACATGGCAGTCCTGA	0.652000													17	34					5.3912e-06	5.93464e-06	0.539581	1	0
C9	735	broad.mit.edu	37	5	39308356	39308356	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:39308356C>T	ENST00000263408.4	-	8	1311	c.1216G>A	c.(1216-1218)Gta>Ata	p.V406I		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	406	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CCCCTCTTTACACAATCATCT	0.418000													24	94					0	0	0.729181	0	0
POTEC	388468	broad.mit.edu	37	18	14537970	14537970	+	Missense_Mutation	SNP	C	C	T	rs148283099	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:14537970C>T	ENST00000358970.5	-	3	639	c.640G>A	c.(640-642)Gta>Ata	p.V214I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	214										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGGCATTGTACGGCCTGTCAG	0.358000													6	159					0	0	0.217242	0	0
TIMM50	92609	broad.mit.edu	37	19	39972552	39972552	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:39972552T>C	ENST00000314349.4	+	2	580	c.447T>C	c.(445-447)acT>acC	p.T149T	TIMM50_ENST00000607714.1_Silent_p.T46T|TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	46	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGGGAGCACTAAGGCGCAAG	0.632000													25	123					0	0	0.729181	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254123	30254123	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:30254123G>T	ENST00000361644.2	+	5	819	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB3_ENST00000378986.1_Missense_Mutation_p.A28S	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	28										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TCACCAGGGTGCTCAGATCAC	0.517000													16	23					1.15088e-07	1.31967e-07	0.500413	1	0
TTN	7273	broad.mit.edu	37	2	179476296	179476296	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179476296T>A	ENST00000589042.1	-	269	50884	c.50660A>T	c.(50659-50661)tAc>tTc	p.Y16887F	TTN_ENST00000591111.1_Missense_Mutation_p.Y15246F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y14319F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y7947F|TTN_ENST00000460472.2_Missense_Mutation_p.Y7822F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y8014F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15246	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAACATGGTATCCTATGAT	0.438000													41	135					0	0	0.840704	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285042	28285042	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:28285042G>T	ENST00000373894.3	+	8	1252	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R306L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	354					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGGACGCCGCGCTGGGAGCTC	0.632000													27	43					2.08973e-25	3.29001e-25	0.693898	1	0
OPRK1	4986	broad.mit.edu	37	8	54142037	54142037	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:54142037G>T	ENST00000265572.3	-	4	1260	c.963C>A	c.(961-963)acC>acA	p.T321T	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.T232T|OPRK1_ENST00000520287.1_Silent_p.T321T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	321					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.T321T(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGCTACTGTTGGTATAGCCTA	0.517000													14	15					7.93312e-07	8.91828e-07	0.457914	1	0
PTPRC	5788	broad.mit.edu	37	1	198701448	198701448	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:198701448G>T	ENST00000367376.2	+	19	2159	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	PTPRC_ENST00000594404.1_Missense_Mutation_p.S502I|PTPRC_ENST00000352140.3_Missense_Mutation_p.S615I|PTPRC_ENST00000442510.2_Missense_Mutation_p.S665I|PTPRC_ENST00000348564.6_Missense_Mutation_p.S504I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	663	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGGGTGTTCAGCAAGTTTCCT	0.398000													19	83					3.5997e-14	4.8848e-14	0.624587	1	0
UBXN4	23190	broad.mit.edu	37	2	136499519	136499519	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:136499519C>G	ENST00000272638.9	+	1	331	c.20C>G	c.(19-21)gCc>gGc	p.A7G		NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	7					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTCCAGGGCGCCATTCCGGCC	0.701000													7	23					0	0	0.307466	0	0
ZNF80	7634	broad.mit.edu	37	3	113955434	113955434	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:113955434C>A	ENST00000482457.2	-	1	991	c.488G>T	c.(487-489)tGc>tTc	p.C163F		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACATTCTTTGCACCCAAAGAG	0.488000													32	190					4.65686e-17	6.53862e-17	0.788014	1	0
IKBIP	121457	broad.mit.edu	37	12	99020188	99020188	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:99020188T>C	ENST00000299157.4	-	3	1027	c.654A>G	c.(652-654)agA>agG	p.R218R	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	219					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTTCTTCTTGTCTTTTTACTG	0.408000													51	120					0	0	0.870114	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891898	5891898	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr18:5891898G>A	ENST00000581347.1	-	3	810	c.165C>T	c.(163-165)atC>atT	p.I55I	TMEM200C_ENST00000383490.2_Silent_p.I55I|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	55						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CACAGAGGGCGATGAGCCCTG	0.627000													13	36					0	0	0.457914	0	0
PRDM9	56979	broad.mit.edu	37	5	23524604	23524604	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:23524604G>T	ENST00000296682.3	+	10	1294	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	371					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGTGGGGCAGCAAGTGGAAG	0.468000										HNSCC(3;0.000094)			26	87					1.7881e-09	2.19289e-09	0.729181	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236300	140236300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:140236300G>T	ENST00000307360.5	+	1	667	c.667G>T	c.(667-669)Gga>Tga	p.G223*	PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.G223*|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATTTACCGGATCTGTTTC	0.433000													60	113					6.20203e-27	9.8545e-27	0.870114	1	0
GNG2	54331	broad.mit.edu	37	14	52433376	52433376	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:52433376G>T	ENST00000335281.4	+	3	593	c.187G>T	c.(187-189)Gag>Tag	p.E63*	GNG2_ENST00000555472.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000556766.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000553432.1_Nonsense_Mutation_p.E94*|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Nonsense_Mutation_p.E102*|GNG2_ENST00000556752.1_Nonsense_Mutation_p.E63*|GNG2_ENST00000554736.1_Nonsense_Mutation_p.E63*	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	63					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CCCGTTTAGGGAGAAGAAGTT	0.522000													56	178					6.60958e-23	1.01504e-22	0.870114	1	0
SLC35A5	55032	broad.mit.edu	37	3	112299779	112299779	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:112299779A>G	ENST00000492406.1	+	6	1098	c.815A>G	c.(814-816)tAt>tGt	p.Y272C	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	272						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AGCAAACTCTATTTCTTTGGC	0.388000													24	93					0	0	0.654019	0	0
CCDC158	339965	broad.mit.edu	37	4	77283402	77283402	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:77283402C>A	ENST00000388914.3	-	12	2049	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	633										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCACCTTTTCCAGCTCCAAG	0.408000													7	239					0.00448238	0.00466547	0.307466	1	0
LITAF	9516	broad.mit.edu	37	16	11650502	11650502	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:11650502C>A	ENST00000571688.1	-	2	315	c.85G>T	c.(85-87)Gtt>Ttt	p.V29F	LITAF_ENST00000381810.3_Missense_Mutation_p.V29F|LITAF_ENST00000571976.1_Missense_Mutation_p.V29F|LITAF_ENST00000576036.1_Missense_Mutation_p.V29F|LITAF_ENST00000574763.1_Missense_Mutation_p.V29F|LITAF_ENST00000413364.2_Missense_Mutation_p.V29F|LITAF_ENST00000574703.1_Missense_Mutation_p.V29F|LITAF_ENST00000339430.5_Missense_Mutation_p.V29F|LITAF_ENST00000572255.1_Intron|LITAF_ENST00000571459.1_Missense_Mutation_p.V29F|LITAF_ENST00000570904.1_Missense_Mutation_p.V29F	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	29					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						TAACTGTTAACAGCCACTGTC	0.547000													27	56					3.80469e-20	5.67816e-20	0.740014	1	0
GABRB3	2562	broad.mit.edu	37	15	26793136	26793136	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:26793136C>A	ENST00000541819.2	-	10	1496	c.1394G>T	c.(1393-1395)cGa>cTa	p.R465L	GABRB3_ENST00000400188.3_Missense_Mutation_p.R338L|GABRB3_ENST00000299267.4_Missense_Mutation_p.R409L|GABRB3_ENST00000311550.5_Missense_Mutation_p.R409L|GABRB3_ENST00000545868.1_Missense_Mutation_p.R324L			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	409					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGCCCTTCTCGAGGCATGCT	0.488000													33	93					5.91797e-21	8.90932e-21	0.760397	1	0
TTN	7273	broad.mit.edu	37	2	179605479	179605479	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179605479A>T	ENST00000589042.1	-	48	12705	c.12481T>A	c.(12481-12483)Ttc>Atc	p.F4161I	TTN_ENST00000591111.1_Missense_Mutation_p.F3844I|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.F3923I|TTN_ENST00000460472.2_Missense_Mutation_p.F3798I|TTN_ENST00000342175.6_Missense_Mutation_p.F3990I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3844							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGGAGAAGGTTTTCTGG	0.448000													50	158					0	0	0.870114	0	0
GFM2	84340	broad.mit.edu	37	5	74017519	74017519	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:74017519A>G	ENST00000296805.3	-	21	2758	c.2301T>C	c.(2299-2301)gaT>gaC	p.D767D	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Silent_p.D767D|GFM2_ENST00000345239.2_Silent_p.D720D	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	767					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTGTATTTTGATCTTGAGGAT	0.383000													25	72					0	0	0.717897	0	0
NFAT5	10725	broad.mit.edu	37	16	69726060	69726060	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:69726060A>G	ENST00000349945.1	+	14	3602	c.2050A>G	c.(2050-2052)Aat>Gat	p.N684D	NFAT5_ENST00000567239.1_Missense_Mutation_p.N777D|NFAT5_ENST00000354436.2_Missense_Mutation_p.N760D|NFAT5_ENST00000566899.1_Missense_Mutation_p.N684D|NFAT5_ENST00000432919.1_Missense_Mutation_p.N778D|NFAT5_ENST00000393742.2_Missense_Mutation_p.N684D	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	760					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATTTCATCAAATATTTTTCC	0.443000													4	65					0	0	0.150653	0	0
FNDC1	84624	broad.mit.edu	37	6	159660563	159660563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:159660563C>A	ENST00000297267.9	+	14	4395	c.4195C>A	c.(4195-4197)Ccc>Acc	p.P1399T	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1336T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1399						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAAGGGACCCCCGTGGTGAG	0.483000													3	11					0.004672	0.00484087	0.115264	1	0
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230485	29230485	+	RNA	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:29230485G>A	ENST00000441381.1	+	0	79																											ATTCCTTAGTGGGATGGGTTC	0.393000													17	44					0	0	0.557998	0	0
SCO2	9997	broad.mit.edu	37	22	50962505	50962505	+	Silent	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:50962505C>G	ENST00000543927.1	-	2	542	c.336G>C	c.(334-336)cgG>cgC	p.R112R	SCO2_ENST00000535425.1_Silent_p.R112R|SCO2_ENST00000395693.3_Silent_p.R112R|SCO2_ENST00000252785.3_Silent_p.R112R	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	112	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCAGCGAGCCCGGCCTCTGT	0.632000													10	38					0	0	0.335167	0	0
NPPB	4879	broad.mit.edu	37	1	11918861	11918861	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:11918861C>A	ENST00000376468.3	-	1	127	c.30G>T	c.(28-30)gcG>gcT	p.A10A		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	10					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GGAGCAGGAGCGCCCGGGAAG	0.652000													37	60					2.40579e-17	3.39874e-17	0.819951	1	0
TCN1	6947	broad.mit.edu	37	11	59622211	59622211	+	Silent	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:59622211T>C	ENST00000257264.3	-	7	1139	c.1035A>G	c.(1033-1035)acA>acG	p.T345T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	345					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGAAATATGTTTCATTGA	0.408000													9	145					0	0	0.307466	0	0
KIF13B	23303	broad.mit.edu	37	8	29025078	29025078	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:29025078T>A	ENST00000524189.1	-	11	1008	c.970A>T	c.(970-972)Acc>Tcc	p.T324S	KIF13B_ENST00000521515.1_Missense_Mutation_p.T324S	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	324					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCATGGCGGTCTTGCTGTTA	0.463000													50	66					0	0	0.870114	0	0
OR51M1	390059	broad.mit.edu	37	11	5411012	5411012	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:5411012C>T	ENST00000328611.3	+	1	406	c.384C>T	c.(382-384)ctC>ctT	p.L128L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	128						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCTCCTCATGATGTCCT	0.488000													82	307					0	0	0.870114	0	0
TLL1	7092	broad.mit.edu	37	4	166910618	166910618	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:166910618C>A	ENST00000061240.2	+	2	902	c.255C>A	c.(253-255)ccC>ccA	p.P85P	TLL1_ENST00000513213.1_Silent_p.P85P|TLL1_ENST00000507499.1_Silent_p.P85P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	85					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CGCAGAACCCCTTTGGAAACC	0.328000													46	131					1.07234e-20	1.60735e-20	0.870114	1	0
TIGD5	84948	broad.mit.edu	37	8	144681057	144681057	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:144681057G>T	ENST00000321385.3	+	1	984	c.837G>T	c.(835-837)ctG>ctT	p.L279L	TIGD5_ENST00000504548.2_Silent_p.L328L			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	328					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCGCTGCTGCGGGGCTGGT	0.697000													6	12					0.000157383	0.000168923	0.278610	1	0
IL36B	27177	broad.mit.edu	37	2	113788710	113788710	+	Silent	SNP	A	A	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:113788710A>G	ENST00000259213.4	-	3	143	c.36T>C	c.(34-36)taT>taC	p.Y12Y	IL36B_ENST00000327407.2_Silent_p.Y12Y	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	12					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CACGAATAGCATAGGATTTGG	0.463000													15	44					0	0	0.500413	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378419	31378419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:31378419C>T	ENST00000297142.3	-	2	786	c.464G>A	c.(463-465)aGa>aAa	p.R155K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	155					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGATCTGGTCTCTTGCCGAT	0.458000													19	88					0	0	0.592651	0	0
NAV3	89795	broad.mit.edu	37	12	78511909	78511909	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:78511909G>T	ENST00000397909.2	+	14	3045	c.2872G>T	c.(2872-2874)Ggt>Tgt	p.G958C	NAV3_ENST00000228327.6_Missense_Mutation_p.G958C|NAV3_ENST00000266692.7_Missense_Mutation_p.G958C|NAV3_ENST00000536525.2_Missense_Mutation_p.G958C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	958						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGGATGCTGGTGGCAAGTG	0.522000										HNSCC(70;0.22)			35	138					2.40579e-17	3.39874e-17	0.819951	1	0
NCLN	56926	broad.mit.edu	37	19	3207205	3207205	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:3207205G>A	ENST00000246117.4	+	13	1940	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E	NCLN_ENST00000590671.1_Silent_p.E429E	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	503					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACCCAGAGTTTGTCTTCT	0.567000													38	114					0	0	0.812448	0	0
OR5L2	26338	broad.mit.edu	37	11	55594988	55594988	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55594988G>T	ENST00000378397.1	+	1	294	c.294G>T	c.(292-294)atG>atT	p.M98I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468000										HNSCC(27;0.073)			21	129					3.28513e-13	4.35485e-13	0.667858	1	0
DDHD1	80821	broad.mit.edu	37	14	53518577	53518577	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:53518577T>C	ENST00000323669.5	-	12	2505	c.2506A>G	c.(2506-2508)Aaa>Gaa	p.K836E	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	836	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GCATTATCTTTATTCTGCATT	0.333000													2	14					0	0	0.115264	0	0
LRP1	4035	broad.mit.edu	37	12	57572180	57572180	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:57572180G>A	ENST00000243077.3	+	27	4866	c.4400G>A	c.(4399-4401)gGc>gAc	p.G1467D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1467					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			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)	GACGGCTCTGGCCACATGGAG	0.582000													16	54					0	0	0.479597	0	0
SH3BP5	9467	broad.mit.edu	37	3	15300345	15300345	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:15300345G>A	ENST00000383791.3	-	7	1102	c.882C>T	c.(880-882)gcC>gcT	p.A294A	SH3BP5_ENST00000426925.1_Silent_p.A137A|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.A137A|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000408919.3_Silent_p.A137A	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	294	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TACCAGAAATGGCATCAGGCT	0.572000													18	37					0	0	0.520397	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963725	88963725	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:88963725C>A	ENST00000333190.4	+	4	2038	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	477						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGGCTGCAACCCACTGTATTT	0.428000										HNSCC(36;0.09)			56	43					4.33383e-22	6.58207e-22	0.870114	1	0
C2CD5	9847	broad.mit.edu	37	12	22676469	22676469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:22676469C>A	ENST00000333957.4	-	7	946	c.691G>T	c.(691-693)Gag>Tag	p.E231*	C2CD5_ENST00000396028.2_Nonsense_Mutation_p.E231*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.E33*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.E231*|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.E231*	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.E231*(1)|p.E33*(1)									AACCCAGACTCGCCCTCCAGA	0.473000													16	49					2.31682e-05	2.51415e-05	0.479597	1	0
HCG9	10255	broad.mit.edu	37	6	29943054	29943054	+	RNA	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:29943054C>T	ENST00000376800.3	+	0	166																											AGCTCCTGGTCCCGAAAAAAG	0.637000													6	18					0	0	0.217242	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971585	79971585	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:79971585G>T	ENST00000466387.1	+	7	899	c.175G>T	c.(175-177)Gta>Tta	p.V59L	CTNNA2_ENST00000361291.4_Missense_Mutation_p.V93L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V59L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V59L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V59L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	59					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGCCCATGTACTAGCTGC	0.433000													13	38					1.41608e-15	1.95243e-15	0.435327	1	0
NR5A2	2494	broad.mit.edu	37	1	200017865	200017865	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:200017865G>T	ENST00000367362.3	+	5	1275	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G	NR5A2_ENST00000544748.1_Silent_p.G271G|NR5A2_ENST00000236914.3_Silent_p.G297G	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	343	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GCACCTTTGGGCTTATGTGCA	0.478000													42	137					4.14194e-30	6.67366e-30	0.859065	1	0
ZNF195	7748	broad.mit.edu	37	11	3381036	3381036	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:3381036T>C	ENST00000354599.6	-	4	1090	c.986A>G	c.(985-987)cAg>cGg	p.Q329R	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.Q333R|ZNF195_ENST00000399602.4_Missense_Mutation_p.Q401R|ZNF195_ENST00000005082.9_Missense_Mutation_p.Q378R|ZNF195_ENST00000343338.7_Missense_Mutation_p.Q333R|ZNF195_ENST00000526601.1_Missense_Mutation_p.Q382R	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTCATTTCTCTGGTGTTTGGA	0.408000													81	239					0	0	0.870114	0	0
IMPG1	3617	broad.mit.edu	37	6	76715168	76715168	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:76715168G>T	ENST00000369950.3	-	10	1160	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	324	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGAATCAAAAGACAGGAGGTC	0.453000													26	108					1.1804e-14	1.60814e-14	0.667858	1	0
CLSTN2	64084	broad.mit.edu	37	3	140281733	140281733	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:140281733C>A	ENST00000458420.3	+	14	2483	c.2293C>A	c.(2293-2295)Cgg>Agg	p.R765R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	765			R -> Q (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTGAGGCCCGGCGTTTCCG	0.572000										HNSCC(16;0.037)			11	72					3.86212e-05	4.16479e-05	0.361761	1	0
CACNG6	59285	broad.mit.edu	37	19	54502939	54502939	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:54502939C>T	ENST00000252729.2	+	3	1048	c.458C>T	c.(457-459)gCc>gTc	p.A153V	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	153						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCAGTCATGGCCTTGGGGTGC	0.562000													118	347					0	0	0.870114	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272075	186272075	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:186272075C>A	ENST00000424280.1	-	6	1991	c.1512G>T	c.(1510-1512)tgG>tgT	p.W504C	TBCCD1_ENST00000479590.1_5'UTR|TBCCD1_ENST00000446782.1_Missense_Mutation_p.W408C|TBCCD1_ENST00000338733.5_Missense_Mutation_p.W504C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	504					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGTTTTCTGCCAGATCTGTA	0.408000													45	246					1.41504e-22	2.16825e-22	0.859065	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95514982	95514982	+	RNA	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:95514982T>A	ENST00000432432.2	-	0	675					NR_040113.1																						ACTTGCTTTCTTTTTCAATAA	0.323000													59	153					0	0	0.870114	0	0
DZANK1	55184	broad.mit.edu	37	20	18377178	18377178	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:18377178T>A	ENST00000357236.4	-	16	1866	c.1207A>T	c.(1207-1209)Act>Tct	p.T403S	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.T517S|DZANK1_ENST00000377630.5_Missense_Mutation_p.T350S|DZANK1_ENST00000329494.5_Missense_Mutation_p.T519S			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	344						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCGTGGACAGTAGCAGAGATA	0.383000													58	90					0	0	0.870114	0	0
MYO16	23026	broad.mit.edu	37	13	109472729	109472729	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:109472729C>A	ENST00000356711.2	+	8	972	c.846C>A	c.(844-846)caC>caA	p.H282Q	MYO16_ENST00000357550.2_Missense_Mutation_p.H282Q|MYO16_ENST00000251041.5_Missense_Mutation_p.H282Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	282					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAAACCCACACCTCGTGAACT	0.438000													4	18					0.000602214	0.000638403	0.184627	1	0
ASTN1	460	broad.mit.edu	37	1	176927497	176927497	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:176927497C>T	ENST00000367654.2	-	10	1757	c.1744G>A	c.(1744-1746)Gat>Aat	p.D582N	ASTN1_ENST00000361833.2_Missense_Mutation_p.D574N|ASTN1_ENST00000367657.3_Missense_Mutation_p.D574N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D574N|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	582					cell migration|neuron cell-cell adhesion	integral to membrane		p.D574H(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCACAGCATCCTCCATCACA	0.532000													13	49					0	0	0.500413	0	0
ZNF208	7757	broad.mit.edu	37	19	22155424	22155424	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:22155424G>T	ENST00000397126.4	-	4	2560	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCAT	0.363000													29	89					9.80776e-20	1.45739e-19	0.706142	1	0
IGHV3-53	28420	broad.mit.edu	37	14	107048842	107048842	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:107048842G>T	ENST00000390627.2	-	0	398																											CCCTTCCCTGGAGCCTGGCGG	0.577000													37	352					9.40368e-32	1.53675e-31	0.870114	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716466	142716466	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:142716466C>A	ENST00000381779.4	-	2	2684	c.2459G>T	c.(2458-2460)aGt>aTt	p.S820I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S820I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S820I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	820						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAGGGGAACTCTGCAGTTT	0.393000													45	42					3.86361e-14	5.2326e-14	0.870114	1	0
SEC22B	9554	broad.mit.edu	37	1	145115999	145115999	+	RNA	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:145115999C>T	ENST00000453618.1	+	0	1085							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GAACTTCTGCCTCTAAAGACC	0.423000													5	65					0	0	0.184627	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170184	20170184	+	RNA	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:20170184C>A	ENST00000338912.5	-	0	87																											GGCTTCTTCACCTCAGCCCCA	0.572000													24	69					6.44725e-10	8.02117e-10	0.624587	1	0
RCOR1	23186	broad.mit.edu	37	14	103188649	103188649	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:103188649G>A	ENST00000262241.6	+	11	1541	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	RCOR1_ENST00000570597.1_Missense_Mutation_p.E436K	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	436					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AGTTTTACAAGAATGGGAGGC	0.428000													47	135					0	0	0.864702	0	0
ABCB5	340273	broad.mit.edu	37	7	20762764	20762764	+	Silent	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:20762764C>T	ENST00000404938.2	+	21	3199	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ABCB5_ENST00000258738.6_Silent_p.A404A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	404					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTACTTGCCGTGACAGGAA	0.388000													33	94					0	0	0.760397	0	0
PAM	5066	broad.mit.edu	37	5	102286460	102286460	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:102286460G>T	ENST00000438793.3	+	11	1311	c.841G>T	c.(841-843)Ggt>Tgt	p.G281C	PAM_ENST00000346918.2_Missense_Mutation_p.G281C|PAM_ENST00000455264.2_Missense_Mutation_p.G281C|PAM_ENST00000348126.2_Missense_Mutation_p.G281C|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.G281C|PAM_ENST00000274392.9_Missense_Mutation_p.G184C	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	281	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTAAGTTTTGGTGACCTACT	0.378000													28	56					3.67414e-24	5.71902e-24	0.760397	1	0
CPT1B	1375	broad.mit.edu	37	22	51009711	51009711	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:51009711T>G	ENST00000360719.2	-	15	1888	c.1751A>C	c.(1750-1752)aAg>aCg	p.K584T	CPT1B_ENST00000405237.3_Missense_Mutation_p.K584T|CPT1B_ENST00000395650.2_Missense_Mutation_p.K584T|CPT1B_ENST00000312108.7_Missense_Mutation_p.K584T|CPT1B_ENST00000457250.1_Missense_Mutation_p.K550T|CPT1B_ENST00000440709.1_Missense_Mutation_p.K503T|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.K379T	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	584					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGGCAGAACTTACCCCTGTC	0.602000													10	41					0	0	0.335167	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131825	82131825	+	Silent	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:82131825G>A	ENST00000199936.4	+	5	1141	c.948G>A	c.(946-948)aaG>aaA	p.K316K	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	316					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TAGCCAGCAAGGACTTCTCTC	0.542000													39	73					0	0	0.812448	0	0
KDR	3791	broad.mit.edu	37	4	55968085	55968085	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:55968085C>T	ENST00000263923.4	-	15	2540	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	749	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAATGCCTCCACTTTTGCA	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			77	80					0	0	0.870114	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102474116	102474116	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:102474116G>A	ENST00000321521.9	+	5	1003	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.E144K|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.E144K			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	144					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTTCAAGCTGAAGGTATTTT	0.338000													16	47					0	0	0.539581	0	0
PLAG1	5324	broad.mit.edu	37	8	57079634	57079634	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr8:57079634C>G	ENST00000316981.3	-	5	1150	c.671G>C	c.(670-672)cGa>cCa	p.R224P	PLAG1_ENST00000429357.2_Missense_Mutation_p.R224P|PLAG1_ENST00000423799.2_Missense_Mutation_p.R142P	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	224	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTGATCCTTTCGCCCAAATCT	0.478000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								36	46					0	0	0.812448	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846286	47846286	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:47846286G>T	ENST00000339488.4	-	3	2327	c.2294C>A	c.(2293-2295)tCt>tAt	p.S765Y		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	765						integral to membrane	hedgehog receptor activity										AATAAGAAAAGAAGTAACATT	0.443000													12	36					0.000978159	0.00102901	0.387290	1	0
DNAH9	1770	broad.mit.edu	37	17	11833273	11833273	+	Missense_Mutation	SNP	A	A	T	rs141342607		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:11833273A>T	ENST00000262442.3	+	63	12036	c.11968A>T	c.(11968-11970)Atg>Ttg	p.M3990L	DNAH9_ENST00000396001.2_Missense_Mutation_p.M302L|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3990	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGGTCTTCATGAGTGCAGA	0.582000													11	21					0	0	0.361761	0	0
TTN	7273	broad.mit.edu	37	2	179635394	179635394	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179635394T>C	ENST00000589042.1	-	35	8349	c.8125A>G	c.(8125-8127)Att>Gtt	p.I2709V	TTN_ENST00000591111.1_Missense_Mutation_p.I2709V|TTN_ENST00000342992.6_Missense_Mutation_p.I2709V|TTN_ENST00000359218.5_Missense_Mutation_p.I2663V|TTN_ENST00000460472.2_Missense_Mutation_p.I2663V|TTN_ENST00000342175.6_Missense_Mutation_p.I2663V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2709V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2447							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTCTTAATTTTGACAGCT	0.393000													49	129					0	0	0.870114	0	0
BEST3	144453	broad.mit.edu	37	12	70049538	70049538	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:70049538C>A	ENST00000330891.5	-	10	1382	c.1156G>T	c.(1156-1158)Ggc>Tgc	p.G386C	BEST3_ENST00000488961.1_Missense_Mutation_p.G173C|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.G280C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	386						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCCGATGGCCATGCTTCTCA	0.547000													35	117					2.75727e-19	4.04478e-19	0.804634	1	0
WNT2	7472	broad.mit.edu	37	7	116955239	116955239	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:116955239A>T	ENST00000265441.3	-	3	773	c.474T>A	c.(472-474)agT>agA	p.S158R	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	158					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAATGTTATCACTGCAGCCAC	0.473000													80	109					0	0	0.870114	0	0
IGHA2	3494	broad.mit.edu	37	14	106054572	106054572	+	RNA	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:106054572G>T	ENST00000390539.2	-	0	160																											CTGGCTAGGTGGGAAGTTTCT	0.637000													12	56					1.05317e-09	1.29853e-09	0.457914	1	0
TTN	7273	broad.mit.edu	37	2	179603084	179603084	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:179603084G>A	ENST00000589042.1	-	49	14320	c.14096C>T	c.(14095-14097)gCc>gTc	p.A4699V	TTN_ENST00000591111.1_Missense_Mutation_p.A4382V|TTN_ENST00000342992.6_Missense_Mutation_p.A3455V|TTN_ENST00000359218.5_Missense_Mutation_p.A4461V|TTN_ENST00000460472.2_Missense_Mutation_p.A4336V|TTN_ENST00000342175.6_Missense_Mutation_p.A4528V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4382	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCACTGGGGCAGCTGCAAA	0.453000													11	43					0	0	0.435327	0	0
CFB	629	broad.mit.edu	37	6	31911569	31911569	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:31911569G>T	ENST00000456570.1	+	10	1312	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	CFB_ENST00000556679.1_Missense_Mutation_p.K419N|C2_ENST00000469372.1_Missense_Mutation_p.K326N|C2_ENST00000299367.5_Missense_Mutation_p.K572N|C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.K343N|C2_ENST00000442278.2_Missense_Mutation_p.K440N|C2_ENST00000452323.2_Missense_Mutation_p.K358N			P00751	CFAB_HUMAN	complement factor B	587	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAAAGTAAAGATGTCCACCC	0.547000													35	118					2.87052e-16	3.98169e-16	0.812448	1	0
CUL3	8452	broad.mit.edu	37	2	225400280	225400280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:225400280C>T	ENST00000264414.4	-	3	681	c.343G>A	c.(343-345)Gct>Act	p.A115T	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.A91T|CUL3_ENST00000409096.1_Missense_Mutation_p.A91T|CUL3_ENST00000344951.4_Missense_Mutation_p.A49T	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	115					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ATCACCATAGCTGTTTGATGA	0.343000													13	35					0	0	0.435327	0	0
GREB1	9687	broad.mit.edu	37	2	11718542	11718542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:11718542G>T	ENST00000381486.2	+	6	1057	c.757G>T	c.(757-759)Gga>Tga	p.G253*	GREB1_ENST00000381483.2_Nonsense_Mutation_p.G253*|GREB1_ENST00000389825.3_Nonsense_Mutation_p.G143*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.G253*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.G253*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	253						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATCCTGATGGGAGCTCAGCA	0.622000													24	63					1.10513e-12	1.45657e-12	0.624587	1	0
UBR2	23304	broad.mit.edu	37	6	42613293	42613293	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:42613293G>A	ENST00000372899.1	+	21	2632	c.2374G>A	c.(2374-2376)Gct>Act	p.A792T	UBR2_ENST00000372901.1_Missense_Mutation_p.A792T|UBR2_ENST00000372883.3_Missense_Mutation_p.A296T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	792					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CAAGCCTATGGCTCATAGTGA	0.373000													28	82					0	0	0.717897	0	0
DMP1	1758	broad.mit.edu	37	4	88583240	88583240	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:88583240G>A	ENST00000339673.6	+	6	409	c.310G>A	c.(310-312)Gac>Aac	p.D104N	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D88N	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	104					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGATAAAGATGACGATGAAGA	0.502000													8	27					0	0	0.278610	0	0
OR8K3	219473	broad.mit.edu	37	11	56085893	56085893	+	Silent	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:56085893C>A	ENST00000312711.1	+	1	111	c.111C>A	c.(109-111)atC>atA	p.I37I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCTATGTGATCTCAGTGATGG	0.433000													65	119					5.08636e-23	7.84623e-23	0.870114	1	0
CPAMD8	27151	broad.mit.edu	37	19	17015051	17015051	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:17015051G>T	ENST00000443236.1	-	32	4408	c.4377C>A	c.(4375-4377)ggC>ggA	p.G1459G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1412						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGAGGAGAAGCCCCCAAGTG	0.652000													6	18					5.9392e-07	6.70964e-07	0.217242	1	0
RHOT2	89941	broad.mit.edu	37	16	720765	720765	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr16:720765G>C	ENST00000315082.4	+	9	745	c.631G>C	c.(631-633)Gct>Cct	p.A211P	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	211	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGAGCTCAACGCTTTCCAGGT	0.662000													19	39					0	0	0.557998	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543323	182543323	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:182543323T>G	ENST00000295108.3	-	2	722	c.265A>C	c.(265-267)Aag>Cag	p.K89Q	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	89	Poly-Lys.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCATCTTCTTCTTTTTGGGG	0.567000													10	37					0	0	0.361761	0	0
OR5D18	219438	broad.mit.edu	37	11	55587970	55587970	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55587970C>A	ENST00000333976.4	+	1	885	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGAATCCCCTGATCTACAG	0.458000													7	70					8.12818e-05	8.7378e-05	0.248553	1	0
MYH1	4619	broad.mit.edu	37	17	10402013	10402013	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:10402013C>T	ENST00000226207.5	-	30	4205	c.4111G>A	c.(4111-4113)Gag>Aag	p.E1371K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1371						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGGCAACCTCACTGTTGGCC	0.547000													49	109					0	0	0.870114	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269706	173269706	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr4:173269706C>A	ENST00000506823.1	+	5	1076	c.419C>A	c.(418-420)cCa>cAa	p.P140Q	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.P123Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	140	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAAGGCTGCCAAACACCAGC	0.403000													40	105					9.14704e-12	1.18963e-11	0.840704	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29414435	29414435	+	Silent	SNP	A	A	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:29414435A>T	ENST00000378993.1	+	4	1096	c.423A>T	c.(421-423)ggA>ggT	p.G141G	IL1RAPL1_ENST00000302196.4_Silent_p.G141G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	141					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATGACACTGGACTCTGCTATA	0.388000													35	26					0	0	0.796494	0	0
PLOD2	5352	broad.mit.edu	37	3	145799596	145799596	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:145799596C>A	ENST00000282903.5	-	12	1464	c.1287G>T	c.(1285-1287)tgG>tgT	p.W429C	PLOD2_ENST00000494950.1_Missense_Mutation_p.W374C|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.W89C|PLOD2_ENST00000360060.3_Missense_Mutation_p.W429C	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	429					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAATGCTCCCCAGAAATTGG	0.378000													15	106					2.32078e-09	2.82102e-09	0.479597	1	0
ARHGAP12	94134	broad.mit.edu	37	10	32141445	32141445	+	Splice_Site	SNP	C	C	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr10:32141445C>A	ENST00000375250.5	-	6	1411	c.1170_splice	c.e6+1	p.K390_splice	ARHGAP12_ENST00000375245.4_Splice_Site_p.K343_splice|ARHGAP12_ENST00000344936.2_Splice_Site_p.K390_splice|ARHGAP12_ENST00000396144.4_Splice_Site_p.K390_splice|ARHGAP12_ENST00000311380.4_Splice_Site_p.K343_splice	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	390	WW 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGTTTATTACCTTTGGCAATT	0.348000													44	80					5.2432e-18	7.51526e-18	0.870114	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390886	208390886	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr1:208390886C>T	ENST00000367033.3	-	2	1139	c.382G>A	c.(382-384)Gcc>Acc	p.A128T		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	128	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCCCACAGGCCAGCAGGCGG	0.587000													34	133					0	0	0.827153	0	0
OR5L1	219437	broad.mit.edu	37	11	55579236	55579236	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:55579236G>T	ENST00000333973.2	+	1	383	c.294G>T	c.(292-294)atG>atT	p.M98I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.453000													29	251					3.78316e-11	4.85599e-11	0.819951	1	0
AGAP2	116986	broad.mit.edu	37	12	58125676	58125676	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:58125676G>T	ENST00000257897.3	-	8	946	c.861C>A	c.(859-861)ctC>ctA	p.L287L	AGAP2_ENST00000547588.1_Silent_p.L623L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	623	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTCGGCTCGGAGCTCCCGGT	0.612000													4	14					0.150653	0.152202	0.150653	1	0
MGAM	8972	broad.mit.edu	37	7	141754672	141754672	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:141754672G>T	ENST00000475668.2	+	27	3332	c.3278G>T	c.(3277-3279)gGg>gTg	p.G1093V	MGAM_ENST00000549489.2_Missense_Mutation_p.G1093V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1093	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATCCATTTGGGATTGAAATT	0.493000													67	104					1.77791e-30	2.87137e-30	0.870114	1	0
SYNE1	23345	broad.mit.edu	37	6	152708424	152708424	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:152708424T>A	ENST00000367255.5	-	54	8871	c.8270A>T	c.(8269-8271)gAa>gTa	p.E2757V	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2796V|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2764V|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2764V|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2757V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2757					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGGGATGTTCTATTTTTTG	0.458000										HNSCC(10;0.0054)			41	145					0	0	0.827153	0	0
MFSD5	84975	broad.mit.edu	37	12	53647566	53647566	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:53647566C>T	ENST00000534842.1	+	2	1415	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	MFSD5_ENST00000329548.4_Missense_Mutation_p.S316F	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	316					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CACCTGCTGTCCCTTGCTGTG	0.542000													42	105					0	0	0.847076	0	0
RB1	5925	broad.mit.edu	37	13	49033970	49033970	+	Splice_Site	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr13:49033970G>T	ENST00000267163.4	+	20	2244		c.e20+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(13)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGGACCAAGTAAGAAAATC	0.393000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	27					7.48243e-07	8.42539e-07	0.335167	1	0
LRFN5	145581	broad.mit.edu	37	14	42356187	42356187	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:42356187G>A	ENST00000554171.1	+	5	2791	c.359G>A	c.(358-360)aGt>aAt	p.S120N	LRFN5_ENST00000554120.1_Missense_Mutation_p.S120N|LRFN5_ENST00000298119.4_Missense_Mutation_p.S120N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	120						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATATGTTCAGTGGTCTTTCC	0.373000										HNSCC(30;0.082)			27	106					0	0	0.693898	0	0
KCNA4	3739	broad.mit.edu	37	11	30033431	30033431	+	Silent	SNP	G	G	T			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:30033431G>T	ENST00000328224.6	-	2	2028	c.795C>A	c.(793-795)gcC>gcA	p.A265A		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	265						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTTCAACAGGGCCTCCTCCC	0.488000													40	103					1.04594e-18	1.51496e-18	0.819951	1	0
CCNT2	905	broad.mit.edu	37	2	135711427	135711427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr2:135711427delG	ENST00000264157.5	+	9	1432	c.1402delG	c.(1402-1404)ggfs	p.G468fs	CCNT2_ENST00000295238.6_Frame_Shift_Del_p.G468fs|CCNT2_ENST00000537343.1_Frame_Shift_Del_p.G293fs	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	468					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GCACAAACAAGGGCAGTCACA	0.388													13	71	---	---	---	---					
CEP70	80321	broad.mit.edu	37	3	138289944	138289944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:138289944delC	ENST00000264982.3	-	5	482	c.216delG	c.(214-216)ttfs	p.L73fs	CEP70_ENST00000542237.1_Frame_Shift_Del_p.L53fs|CEP70_ENST00000481834.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Frame_Shift_Del_p.L73fs|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Frame_Shift_Del_p.L73fs	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	73					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTCCACCAACAATTTCAAAT	0.303													9	75	---	---	---	---					
PLSCR5	389158	broad.mit.edu	37	3	146307593	146307593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr3:146307593delG	ENST00000443512.1	-	6	1627	c.624delC	c.(622-624)acfs	p.T208fs	PLSCR5_ENST00000492200.1_Frame_Shift_Del_p.T208fs|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Frame_Shift_Del_p.T196fs	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	208										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTTCATTAATGGTTTTCACCT	0.318													22	138	---	---	---	---					
SLC12A2	6558	broad.mit.edu	37	5	127510346	127510348	+	In_Frame_Del	DEL	ATT	ATT	-	rs149957408		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr5:127510346_127510348delATT	ENST00000262461.2	+	20	3106_3108	c.2917_2919delATT	c.(2917-2919)del	p.I973del	SLC12A2_ENST00000343225.4_In_Frame_Del_p.I973del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	973					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGAAAAACCAATTACACACAAAG	0.281													16	39	---	---	---	---					
SCAND3	114821	broad.mit.edu	37	6	28539885	28539886	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:28539885_28539886insA	ENST00000452236.2	-	4	4397_4398	c.3780_3781insT	c.(3778-3783)ctctgafs	p.*1261fs		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1261					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcaatctcagcaagctcaggat	0.366													19	83	---	---	---	---					
TULP4	56995	broad.mit.edu	37	6	158914657	158914658	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr6:158914657_158914658delCT	ENST00000367097.3	+	10	3041_3042	c.1684_1685delCT	c.(1684-1686)cfs	p.L562fs	TULP4_ENST00000367094.2_Frame_Shift_Del_p.L562fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	562					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCTCAGGAGCTCTCCCGGTCC	0.649													24	63	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44736099	44736100	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:44736099_44736100delAC	ENST00000222673.5	+	14	1885_1886	c.1843_1844delAC	c.(1843-1845)afs	p.T615fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.T611fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.T626fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.T630fs|OGDH_ENST00000439616.2_Frame_Shift_Del_p.T465fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.T566fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	615					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGATATTCTGACACACATCGGG	0.545													21	60	---	---	---	---					
STAG3L4	64940	broad.mit.edu	37	7	66774209	66774215	+	RNA	DEL	TACCTGT	TACCTGT	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr7:66774209_66774215delTACCTGT	ENST00000416602.2	+	0	567					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTTCTTTCCTACCTGTGTCTTGGCTC	0.449													10	18	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974693	21974693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:21974693delC	ENST00000304494.5	-	1	404	c.134delG	c.(133-135)gtfs	p.G45fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G45fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	45					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.?(25)|p.G45fs*8(3)|p.G45D(2)|p.0(1)|p.V28_V51del(1)|p.G45del(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)		CGGCCTCCGACCGTAACTATT	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			56	100	---	---	---	---					
LOC101928381	101928381	broad.mit.edu	37	9	70117581	70117581	+	RNA	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:70117581delG	ENST00000588215.1	-	0	82																											GGTCTTCAGAGGTTTACCCTC	0.423													2	4	---	---	---	---					
LOC105376072	105376072	broad.mit.edu	37	9	71225401	71225401	+	RNA	DEL	T	T	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:71225401delT	ENST00000413269.2	+	0	460																											ACTCATTTACTTTTGCTCCCA	0.393													11	32	---	---	---	---					
RPL12	6136	broad.mit.edu	37	9	130210254	130210255	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr9:130210254_130210255delTC	ENST00000361436.5	-	6	480_481	c.393_394delGA	c.(391-396)gatcfs	p.EI131fs	RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Frame_Shift_Del_p.EI98fs	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	131					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTCCCCAGGATCTCTTTAATGG	0.505													12	92	---	---	---	---					
BDNF-AS	497258	broad.mit.edu	37	11	27581265	27581266	+	RNA	INS	-	-	GT	rs72253295	by1000genomes	TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr11:27581265_27581266insGT	ENST00000499008.3	+	0	144				BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA	NR_002832.2																						TTCATTTGGCAgtgtgtgtgtg	0.465													3	2	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104106206	104106206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr12:104106206delG	ENST00000388887.2	+	41	4600	c.4396delG	c.(4396-4398)ggfs	p.G1466fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1466	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G1466R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAGGAAACGGGACCATCTG	0.512													35	97	---	---	---	---					
OR4K14	122740	broad.mit.edu	37	14	20482615	20482616	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:20482615_20482616insA	ENST00000305045.2	-	1	736_737	c.737_738insT	c.(736-738)agtfs	p.S246fs		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCGTCACTACCATGATATGTGC	0.490													9	33	---	---	---	---					
TRAV12-2	28673	broad.mit.edu	37	14	22356461	22356461	+	RNA	DEL	C	C	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr14:22356461delC	ENST00000390437.2	+	0	224																											GGAGCCATTGCCTCTCTCAAC	0.493													29	69	---	---	---	---					
FES	2242	broad.mit.edu	37	15	91436556	91436557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr15:91436556_91436557insC	ENST00000328850.3	+	16	2099_2100	c.1957_1958insC	c.(1957-1959)ccgfs	p.P653fs	FES_ENST00000444422.2_Frame_Shift_Ins_p.P583fs|FES_ENST00000394300.3_Frame_Shift_Ins_p.P595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.P512fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.P525fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.P525fs	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	653	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACGGAGGGGGCCCGCCTGCGG	0.673													7	24	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578474	7578474	+	Frame_Shift_Del	DEL	C	C	-	rs137852790		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:7578474delC	ENST00000420246.2	-	5	588	c.456delG	c.(454-456)ccfs	p.P153fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P153fs*28(9)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P153fs*16(1)|p.P151_V173del23(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGGTGCCGGGCGGGGGTGTGG	0.612		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)			13	52	---	---	---	---					
MLLT6	4302	broad.mit.edu	37	17	36871978	36871979	+	Frame_Shift_Ins	INS	-	-	G	rs142342422		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr17:36871978_36871979insG	ENST00000325718.7	+	9	1024_1025	c.933_934insG	c.(931-936)aaggaafs	p.E312fs	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	312					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TGAGTCATAAAGGGAAGAAACT	0.574			T	MLL	AL								14	32	---	---	---	---					
IZUMO2	126123	broad.mit.edu	37	19	50666294	50666295	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr19:50666294_50666295delGC	ENST00000293405.3	-	1	157_158	c.157_158delGC	c.(157-159)cfs	p.A53fs		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	53						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CACGGCCCCGGCGCGCGCCTGC	0.668													13	37	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23346248	23346248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr20:23346248delG	ENST00000338121.5	+	2	1305	c.1228delG	c.(1228-1230)gcfs	p.G410fs	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Frame_Shift_Del_p.G410fs|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	410					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCACCGCTGCGGCCAGTGCGG	0.682													27	78	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													2	4	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525235	43525252	+	In_Frame_Del	DEL	TGCTGCTGGCGCTGCTGC	TGCTGCTGGCGCTGCTGC	-	rs140238366		TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chr22:43525235_43525252delTGCTGCTGGCGCTGCTGC	ENST00000216115.2	+	5	470_487	c.407_424delTGCTGCTGGCGCTGCTGC	c.(406-426)gtg>g	p.VLLALLL136del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	136					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGCGAACAGGtgctgctggcgctgctgctgctgctggc	0.711													12	59	---	---	---	---					
DACH2	117154	broad.mit.edu	37	X	86069720	86069720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:86069720delA	ENST00000373131.1	+	9	1691	c.1528delA	c.(1528-1530)aafs	p.K511fs	DACH2_ENST00000477378.2_Intron|DACH2_ENST00000508860.1_Frame_Shift_Del_p.K357fs|DACH2_ENST00000373125.4_Frame_Shift_Del_p.K524fs|DACH2_ENST00000510272.1_Frame_Shift_Del_p.K305fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	524	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAAGAAGGAGAAAAAAACCAA	0.428													16	18	---	---	---	---					
TSPAN6	7105	broad.mit.edu	37	X	99890221	99890221	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:99890221delA	ENST00000373020.4	-	3	416	c.305delT	c.(304-306)tgfs	p.L102fs	TSPAN6_ENST00000496771.1_5'UTR	NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	102					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CAGTTCGACCAAAAAAACGAG	0.393													11	7	---	---	---	---					
PLXNB3	5365	broad.mit.edu	37	X	153034499	153034499	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5360-01A-01D-1434-08	TCGA-CN-5360-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	174f1ea8-abcf-44ee-b17b-9687b3ab6dae	a0cd5de0-863d-4f83-b9c5-949162c0963c	g.chrX:153034499delG	ENST00000538966.1	+	6	1703	c.1432delG	c.(1432-1434)gcfs	p.G478fs	PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.G455fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.G108fs|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	455					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACAGCAGTGGCAGTCACCT	0.642													27	22	---	---	---	---					
