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
PADI4	23569	broad.mit.edu	37	1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17668541G>C	uc001baj.2	+	6	784	c.756G>C	c.(754-756)gaG>gaC	p.E252D	PADI4_uc009vpc.2_Missense_Mutation_p.E252D	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	252					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTACGTGGAGGCCCTCGCTT	0.602000													25	39					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12699203	12699203	+	Splice_Site	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:12699203C>A	uc002kri.3	-	4	452	c.296_splice	c.e4-1	p.T99_splice	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Splice_Site|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_Splice_Site|CEP76_uc010xab.1_Intron	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	99					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATATTAGCTGTAAAGTGT	0.363000													16	18					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:70673953C>A	uc001jou.3	+	6	1189	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	DDX50_uc001jot.3_Missense_Mutation_p.T361N	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	361						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTGCAACTACTGTGGAAGTA	0.348000													13	14					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:124664821A>G	uc003yqs.1	-	0	370	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTTGGGGAACTGTAGCATG	0.567000													9	33					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169483632	169483632	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483632G>A	uc001ggg.1	-	24	6739	c.6594C>T	c.(6592-6594)tcC>tcT	p.S2198S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2198	F5/8 type C 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)	GGATAAACCTGGAAATGATTG	0.348000													10	22					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193262	28193262	+	Silent	SNP	G	G	A	rs147753551	by1000genomes	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:28193262G>A	uc003adj.3	-	0	4225	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1090							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTCCCCGGCGCCTACCCCAC	0.687000			T	ETV6	"""AML, meningioma"""								6	12					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741195	48741195	+	Silent	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48741195G>T	uc002isl.3	+	8	1232	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	ABCC3_uc002isk.4_Silent_p.G384G|ABCC3_uc002ism.3_Silent_p.G66G	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	384	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCGTACTGGGATCATGGGTG	0.557000													18	33					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:117501355C>G	uc003vjf.3	-	1	189	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	33										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATCCACATCAAACTCT	0.458000													3	19					0	0	1	0	0
DYNLT1	6993	broad.mit.edu	37	6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:159057917A>C	uc003qrn.2	-	4	348	c.284T>G	c.(283-285)gTg>gGg	p.V95G		NM_006519	NP_006510	P63172	DYLT1_HUMAN	Homo sapiens dynein, light chain, Tctex-type 1 (DYNLT1), mRNA.	95	Interaction with GNB1 (By similarity).				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	Golgi apparatus|cytoplasmic dynein complex|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CTCCCATCGCACAGTGCAGCT	0.512000													3	17					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:97860340C>T	uc003upg.3	-	14	2420	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_uc003uph.1_Missense_Mutation_p.D669N	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	739						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAAGATGTCCCCCTTGCAG	0.692000													6	36					0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714866	183714866	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:183714866C>A	uc003ivd.1	+	24	7116	c.7041C>A	c.(7039-7041)acC>acA	p.T2347T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2347					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCCACTCACCAAATTAATCC	0.408000													21	33					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21392117	21392117	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:21392117T>C	uc001req.4	+	14	2174	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	690					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTGAAACACATTGTTAAGGGG	0.373000													23	49					0	0	1	0	0
FOXD2	2306	broad.mit.edu	37	1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:47904210C>G	uc001crm.3	+	0	2522	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_004474	NP_004465	O60548	FOXD2_HUMAN	Homo sapiens forkhead box D2 (FOXD2), mRNA.	135					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GTACATCGCGCTCATCACCAT	0.716000													12	11					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:19423224G>T	uc002zpg.3	+	3	402	c.360G>T	c.(358-360)aaG>aaT	p.K120N	HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN	Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA.	120					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCTGAAGAAGTGGTCCTTGT	0.527000													59	114					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:138833005A>G	uc003vus.2	+	6	713	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	TTC26_uc003vuq.2_Missense_Mutation_p.Y200C|TTC26_uc011kqm.1_Intron|TTC26_uc003vur.4_Missense_Mutation_p.Y200C|TTC26_uc011kqn.1_Missense_Mutation_p.Y200C|TTC26_uc011kqo.1_Missense_Mutation_p.Y169C|TTC26_uc011kqp.1_Missense_Mutation_p.Y95C|TTC26_uc003vut.2_Missense_Mutation_p.Y60C|TTC26_uc011kqq.1_Intron	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	200							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGTTGGATTACTATGATGTG	0.393000													4	73					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842618	123842618	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:123842618G>A	uc001lfv.3	+	3	963	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.S201S|TACC2_uc010qtv.2_Silent_p.S201S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	201						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGAATGTCGCCAGTACCCC	0.582000													13	21					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:27999097T>G	uc002heo.1	-	7	584	c.584A>C	c.(583-585)aAc>aCc	p.N195T	SSH2_uc010wbh.1_Missense_Mutation_p.N222T|SSH2_uc002hep.1_Missense_Mutation_p.N195T	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	195					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTAGTAGTTATGCGCTCT	0.463000													18	27					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990668	134990668	+	Silent	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:134990668A>C	uc004ezh.3	+	11	1500	c.1333A>C	c.(1333-1335)Agg>Cgg	p.R445R	SAGE1_uc010nry.1_Silent_p.R414R|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	445										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAGCAAGGATGGAAAA	0.423000													32	19					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:75081432C>A	uc002snd.3	+	1	2002	c.76C>A	c.(76-78)Ctc>Atc	p.L26I		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	26	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGACCAGTATCTCTACCACAT	0.493000													65	119					0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162078	142162078	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:142162078T>A	uc011krx.2	-	1	212	c.197A>T	c.(196-198)tAt>tTt	p.Y66F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.Y66F					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		AACTGAATAATAAATCAGCTT	0.478000													69	81					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:79635159C>G	uc004ako.1	+	0	589	c.589C>G	c.(589-591)Cag>Gag	p.Q197E		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	197					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCTCCCGTCACAGCCCCCGCA	0.761000													14	26					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694233	141694233	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:141694233C>T	uc010jgi.1	-	2	751	c.510G>A	c.(508-510)gcG>gcA	p.A170A	SPRY4_uc003lml.2_Silent_p.A147A|SPRY4_uc021yet.1_Silent_p.A147A	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	147	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGGACCGCCGGGCCCT	0.652000									Testicular Cancer, Familial Clustering of				6	86					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8553409	8553409	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:8553409T>C	uc004csf.3	-	5	905	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	252	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	p.T251S(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGTCTTATGTCAGTCAGTTG	0.498000													38	7					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79365096	79365096	+	RNA	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:79365096G>A	uc002soa.1	-	1		c.138C>T			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		ATCTCACCTTGGCTCAGAGAC	0.493000													4	10					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101487277	101487277	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:101487277T>C	uc001dts.2	-	2	327	c.180A>G	c.(178-180)gaA>gaG	p.E60E	DPH5_uc001dtr.2_Silent_p.E60E|DPH5_uc001dtt.2_Silent_p.E60E|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtq.2_Non-coding_Transcript|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	p.E60*(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTTGTTCCACTTCTTCTCTAT	0.368000													11	16					0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22471727	22471727	+	Silent	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:22471727T>G	uc001wct.4	+	1	255	c.150T>G	c.(148-150)acT>acG	p.T50T	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc010tmm.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 19, partial cds, clone: SEB 336.																		GCTATTCAACTTTTCTATTCT	0.493000													22	25					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	rs471009		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:117079654A>T	uc001pqr.3	-	12	1851	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_uc001pqs.1_5'Flank	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	550	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607000			T	IGH@	MLCLS								3	17					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	rs80359088		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:32906456G>C	uc001uub.1	+	9	1068	c.841G>C	c.(841-843)Gac>Cac	p.D281H	BRCA2_uc001uua.1_Missense_Mutation_p.D158H	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	281					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGCTGCAAAGACCACATTGG	0.289000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	12					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:26681858T>C	uc001mqt.4	+	26	2958	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_uc010rdr.2_Missense_Mutation_p.V922A|ANO3_uc010rds.2_Missense_Mutation_p.V777A|ANO3_uc010rdt.2_Missense_Mutation_p.V792A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	938						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTCCAGACGTACCAAAGGGT	0.383000													26	49					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614289	48614289	+	Silent	SNP	C	C	T	rs139261708	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48614289C>T	uc010wms.2	+	2	725	c.537C>T	c.(535-537)cgC>cgT	p.R179R	EPN3_uc002ira.4_Silent_p.R124R|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.R124R			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	124						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCAACGTGCGCGAGAAGGTCA	0.637000													22	32					0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:37336834A>G	uc003onq.4	+	2	1008	c.815A>G	c.(814-816)aAt>aGt	p.N272S	RNF8_uc003onr.4_Missense_Mutation_p.N272S|RNF8_uc011dtx.2_Missense_Mutation_p.N204S	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	272					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.M271R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCCGTTATGAATGTGAAAAAG	0.453000													11	30					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147472	129147472	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129147472G>C	uc022cdu.1	+	2	768	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_uc010nrd.1_Missense_Mutation_p.A144P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	242	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTCCAAGTTGCCACTTCGGT	0.632000													52	42					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524830	112524830	+	Missense_Mutation	SNP	G	G	T	rs144600384	by1000genomes	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:112524830G>T	uc001ebu.1	-	1	999	c.519C>A	c.(517-519)ttC>ttA	p.F173L	KCND3_uc001ebv.1_Missense_Mutation_p.F173L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	173						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGGGTTCTCGAAGGCCCGCC	0.617000													3	34					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570695	17570695	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17570695G>A	uc001bah.1	+	15	2041	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	PADI1_uc010oco.1_Missense_Mutation_p.R207H|PADI1_uc010ocp.1_Missense_Mutation_p.R165H|PADI1_uc010ocq.1_Missense_Mutation_p.R121H|PADI1_uc009vpb.1_Missense_Mutation_p.A44T	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	650					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCAACGTGCGCAGGAAGCCC	0.607000													15	32					0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	436020	436020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:436020T>C	uc003gaf.4	-	2	2558	c.2332A>G	c.(2332-2334)Att>Gtt	p.I778V	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.I746V|ABCA11P_uc010ibe.3_Missense_Mutation_p.I734V	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		CCAGTATGAATTTTCTTATAT	0.378000													9	11					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:32591878C>T	uc003tcv.1	+	5	646	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_uc011kai.2_Missense_Mutation_p.A167V|AVL9_uc010kwj.1_Missense_Mutation_p.A8V	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	167						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGAGGTGCTTCATTAGAA	0.313000													3	16					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:49053448G>T	uc003cvk.1	-	9	1421	c.1401C>A	c.(1399-1401)gaC>gaA	p.D467E	DALRD3_uc003cvl.1_Missense_Mutation_p.L459M|DALRD3_uc003cvm.1_Missense_Mutation_p.D300E|DALRD3_uc010hko.1_Missense_Mutation_p.D300E|DALRD3_uc011bca.1_3'UTR	NM_001009996	NP_060584	Q5D0E6	DALD3_HUMAN	Homo sapiens DALR anticodon binding domain containing 3 (DALRD3), transcript variant 1, mRNA.	467					arginyl-tRNA aminoacylation	cytoplasm	ATP binding|arginine-tRNA ligase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCTGTGCAGTCCAGCACTG	0.567000													19	41					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29761110	29761110	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:29761110C>T	uc002hgn.1	+	2	535	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	102	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGCTGCCGTGCGCGCCAGAGA	0.642000													3	11					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47256512	47256512	+	Silent	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:47256512T>A	uc010fbb.3	+	14	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_uc002rvm.3_Silent_p.P563P|TTC7A_uc002rvn.1_Silent_p.P478P|TTC7A_uc002rvo.3_Silent_p.P597P|TTC7A_uc010fbc.3_Silent_p.P243P|TTC7A_uc002rvp.3_Silent_p.P478P|TTC7A_uc002rvq.3_Silent_p.P337P|TTC7A_uc002rvr.3_Silent_p.P46P	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	597							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGAGCACCCTGAGAACTTCA	0.622000													24	47					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:27217729A>G	uc011lno.2	+	17	3348	c.2906A>G	c.(2905-2907)tAc>tGc	p.Y969C	TEK_uc003zqi.4_Missense_Mutation_p.Y1012C|TEK_uc011lnp.2_Missense_Mutation_p.Y864C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1012	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCACTGAATTACAGTGTGTAC	0.438000													16	31					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9855030	9855030	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:9855030G>A	uc003btg.3	+	4	791	c.315_splice	c.e4+1	p.M105_splice	TTLL3_uc003btd.4_Splice_Site_p.M199_splice|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Splice_Site|TTLL3_uc010hco.1_Splice_Site|TTLL3_uc003bth.4_Splice_Site|TTLL3_uc011atj.2_5'Flank	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	105					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTCTGATGGTGAGGGCCCT	0.517000													5	7					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628471	51628471	+	Silent	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:51628471T>G	uc010yct.2	+	0	335	c.240T>G	c.(238-240)gcT>gcG	p.A80A	SIGLEC9_uc002pvu.3_Silent_p.A80A	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	80	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAACCCAGCTCGGGCAGTGT	0.572000													28	72					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207112706	207112706	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:207112706C>T	uc001hez.3	-	2	330	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	PIGR_uc009xbz.3_Missense_Mutation_p.R49Q	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	49	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.R49W(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGGGTGTGCCGGTTGACAGA	0.567000													30	25					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:67017956C>A	uc001ojw.3	+	16	3319	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_Missense_Mutation_p.L513M|KDM2A_uc010rpn.2_Missense_Mutation_p.L380M|KDM2A_uc001ojz.1_Missense_Mutation_p.L277M|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTGCCCAAGCTGCAGGCCAT	0.622000													12	52					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142204017	142204017	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:142204017A>T	uc003eux.4	-	35	6308	c.6186T>A	c.(6184-6186)ggT>ggA	p.G2062G		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2062	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGATGAGATCACCTTGCTTTT	0.408000								Other conserved DNA damage response genes					5	57					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927092	151927092	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:151927092G>A	uc003wla.3	-	17	3111	c.2892C>T	c.(2890-2892)ggC>ggT	p.G964G	MLL3_uc003wkz.3_Silent_p.G25G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	964					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCCAAAACTGCCACAAACTA	0.348000			N		medulloblastoma								12	191					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	863369	863369	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:863369G>A	uc021qss.1	+	0	1281	c.638G>A	c.(637-639)gGa>gAa	p.G213E	WNK1_uc001qin.3_Missense_Mutation_p.G213E|WNK1_uc001qio.4_Missense_Mutation_p.G213E|WNK1_uc021qst.1_Missense_Mutation_p.G213E|WNK1_uc001qip.4_Missense_Mutation_p.G213E	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	213					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGGCCGTGGGAATGTCTAAC	0.577000													6	54					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910499	132910499	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:132910499C>T	uc003qdk.2	-	0	379	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	109					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.L109M(1)|p.R108C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGTAGGTGTGCAGGCGGCAGA	0.582000													25	75					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:85686864A>G	uc003yct.4	+	2	480	c.346A>G	c.(346-348)Aag>Gag	p.K116E	RALYL_uc003ycq.4_Missense_Mutation_p.K103E|RALYL_uc003ycr.4_Missense_Mutation_p.K103E|RALYL_uc003ycs.4_Missense_Mutation_p.K103E|RALYL_uc010lzy.3_Missense_Mutation_p.K103E|RALYL_uc003ycu.4_Missense_Mutation_p.K30E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	103							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACCTGGAAACAAGAGGCCCCT	0.353000													6	11					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:19584333C>G	uc001bbs.3	+	5	603	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	116					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGTGGTTCACGAAATACA	0.592000													25	55					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:231775091A>G	uc021vxz.1	-	0	587	c.587T>C	c.(586-588)aTc>aCc	p.I196T	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Missense_Mutation_p.I196T|GPR55_uc010fxs.1_Missense_Mutation_p.I196T	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	196					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGCCCATGATGCCCATGGG	0.567000													34	55					0	0	1	0	0
AP1S3	130340	broad.mit.edu	37	2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:224642531T>A	uc002vnn.3	-	1	211	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_uc010fww.3_Non-coding_Transcript|AP1S3_uc002vno.3_Non-coding_Transcript|AP1S3_uc010fwx.2_Missense_Mutation_p.Y20F	NM_001039569	NP_001034658	Q96PC3	AP1S3_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 3 subunit (AP1S3), mRNA.	20					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGTGATGTACCATTTCTG	0.423000													10	11					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:101612611A>T	uc003yjr.3	-	8	891	c.740T>A	c.(739-741)tTa>tAa	p.L247*	SNX31_uc011lha.2_Nonsense_Mutation_p.L42*|SNX31_uc011lhb.2_Nonsense_Mutation_p.L148*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	247					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAAAGCTTCTAATTTCTGCCT	0.363000													17	103					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877420	156877420	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:156877420C>T	uc001fqj.1	+	6	779	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PEAR1_uc009wsl.1_Intron|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	221						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCCTGTTCCCAGGGCACTT	0.577000													118	122					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:184930515C>A	uc003ivz.1	+	2	1959	c.524C>A	c.(523-525)cCc>cAc	p.P175H	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	175					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTCCGCAACCCGGGACCATC	0.537000													27	57					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:38121937C>T	uc003atr.3	+	6	3645	c.3374C>T	c.(3373-3375)cCa>cTa	p.P1125L	TRIOBP_uc003atu.3_Missense_Mutation_p.P953L|TRIOBP_uc003atq.1_Missense_Mutation_p.P1125L|TRIOBP_uc003ats.1_Missense_Mutation_p.P953L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1125					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCCCCACCACGCCAG	0.637000													6	138					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726659	63726659	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:63726659A>T	uc003tsx.3	+	4	917	c.648A>T	c.(646-648)gaA>gaT	p.E216D		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATGTGAAGAATGCGGCAAAC	0.358000													3	4					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483633G>A	uc001ggg.1	-	24	6738	c.6593C>T	c.(6592-6594)tCc>tTc	p.S2198F		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2198	F5/8 type C 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)	GATAAACCTGGAAATGATTGG	0.348000													10	22					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:27744831C>G	uc001bof.2	-	3	583	c.358G>C	c.(358-360)Gtc>Ctc	p.V120L	WASF2_uc010ofl.2_Missense_Mutation_p.V120L	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	120					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTTCTAAGACAGGCACTGGG	0.458000													16	27					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79365097	79365097	+	RNA	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:79365097G>T	uc002soa.1	-	1		c.137C>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		TCTCACCTTGGCTCAGAGACA	0.498000													4	10					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:30749840G>A	uc002dze.1	+	33	8864	c.8479G>A	c.(8479-8481)Gct>Act	p.A2827T	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A2622T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2827	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCTTCATTGCTCGCCGTCA	0.632000													22	22					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773100	140773100	+	Silent	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140773100G>A	uc003lkd.2	+	0	1618	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.P240P|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCCCCGGTTTTTCCTC	0.582000													26	64					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237756847	237756847	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:237756847T>C	uc001hyl.1	+	32	4467	c.4347T>C	c.(4345-4347)gaT>gaC	p.D1449D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1449	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACATCAGATTTCCATCAGT	0.418000													4	61					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:26500819C>G	uc001isn.2	+	34	5138	c.4778C>G	c.(4777-4779)gCa>gGa	p.A1593G	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.S608R	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1593					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGAGCCAGCAGCCAACCCC	0.652000													10	24					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:220333704A>G	uc010fwg.3	+	11	3425	c.3425A>G	c.(3424-3426)cAt>cGt	p.H1142R		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1142	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAACACCCATGGCCAGGCC	0.652000													7	35					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:149806898G>A	uc010zbu.2	+	9	1285	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	297	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGGAACTGCAGAACCACCATC	0.468000													5	21					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071887	134071887	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:134071887C>T	uc003iha.3	+	0	1418	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.R198C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGTGCACCGCTACGTGCT	0.682000													17	30					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60708507	60708507	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:60708507G>T	uc010gjy.1	+	7	1354	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V	LSM14B_uc010zzz.1_Missense_Mutation_p.G303V	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	383					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCGGGACTGGCAGGGTGTGA	0.637000													16	30					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39877441G>T	uc009vvt.1	+	0	2266	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	366										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGGATGCAGAAAATTTACT	0.393000													10	17					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92403440	92403440	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:92403440C>T	uc010aue.3	-	4	826	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	FBLN5_uc010aud.3_Missense_Mutation_p.R82Q|FBLN5_uc001xzx.4_Missense_Mutation_p.R77Q	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	77					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				gtagggCCCTCGATACACAGG	0.572000													13	25					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:100452198T>A	uc001tgq.3	-	13	3086	c.2857A>T	c.(2857-2859)Agt>Tgt	p.S953C	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.S603C	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	953										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTGTATCACTAGCTGATTTA	0.318000													10	8					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065052	57065052	+	Splice_Site	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:57065052G>C	uc002qnj.3	+	8	970	c.899_splice	c.e8-1	p.G300_splice	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTATCTTTCAGGCCAGCGATC	0.373000													14	35					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:154884795G>T	uc010hvr.1	+	17	1976	c.1765G>T	c.(1765-1767)Ggc>Tgc	p.G589C	MME_uc003fab.1_Missense_Mutation_p.G589C|MME_uc003fac.1_Missense_Mutation_p.G589C|MME_uc003fad.1_Missense_Mutation_p.G589C|MME_uc003fae.1_Missense_Mutation_p.G589C	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	589					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)	AATCACCCATGGCTTCGATGA	0.443000													19	75					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:46897058T>G	uc001ndn.4	-	26	4117	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1292					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTGGCAGGTTGGACCTCACG	0.597000													15	30					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:94039857G>A	uc021qou.1	+	1	317	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	106						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGGCCCTGGATCCAGCCA	0.537000													13	29					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39325295	39325295	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39325295C>T	uc001ccq.2	-	0	46	c.24G>A	c.(22-24)gaG>gaA	p.E8E	RRAGC_uc010oim.1_Silent_p.E8E|RRAGC_uc001ccr.2_Intron	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Homo sapiens Ras-related GTP binding C (RRAGC), mRNA.	8					RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GGGGCGTCTCCTCCGCCCCGT	0.746000													3	3					0	0	1	0	0
THYN1	29087	broad.mit.edu	37	11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:134120183C>T	uc001qhf.3	-	3	379	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_uc001qhg.3_Missense_Mutation_p.V93I|THYN1_uc001qhh.3_Missense_Mutation_p.V93I|THYN1_uc001qhi.3_Missense_Mutation_p.V93I|THYN1_uc001qhj.3_Missense_Mutation_p.V93I|THYN1_uc009zdb.3_Missense_Mutation_p.V93I	NM_001037305	NP_954995	Q9P016	THYN1_HUMAN	Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA.	93						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TAGTTACGAACACCATCCCAG	0.493000													8	28					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084351	66084351	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:66084351C>T	uc001ohm.1	-	0	165	c.148G>A	c.(148-150)Gcc>Acc	p.A50T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	50	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TCGCGGCAGGCCCGCCAGGCC	0.766000													6	5					0	0	1	0	0
PSMG3	84262	broad.mit.edu	37	7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:1608783T>C	uc003skx.2	-	0	847	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_uc011jvx.1_Missense_Mutation_p.K65E|KIAA1908_uc003sla.3_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 3 (PSMG3), transcript variant 1, mRNA.	65										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AGAAGGACTTTTGTGGTGAGC	0.602000													19	24					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:32886710A>T	uc010skh.1	+	13	1708	c.1706A>T	c.(1705-1707)gAt>gTt	p.D569V	DNM1L_uc001rld.2_Missense_Mutation_p.D503V|DNM1L_uc001rle.2_Missense_Mutation_p.D503V|DNM1L_uc001rlf.2_Missense_Mutation_p.D503V|DNM1L_uc001rlg.2_Missense_Mutation_p.D569V|DNM1L_uc001rlh.2_Missense_Mutation_p.D556V|DNM1L_uc010ski.1_Missense_Mutation_p.D300V	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	503	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTTGCTGATGCTTGTGGG	0.308000													13	91					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129146576	129146576	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129146576G>C	uc022cdu.1	+	1	153	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_uc010nrd.1_5'Flank	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	37					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTGATGAGGAGTCAACGAC	0.517000													28	23					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945553	151945553	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:151945553C>T	uc003wla.3	-	13	2185	c.1966G>A	c.(1966-1968)Gtt>Att	p.V656I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	656					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.V656I(3)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGTGTGTAACGACTTCAATG	0.393000			N		medulloblastoma								11	22					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38213401	38213401	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:38213401T>C	uc010abx.3	-	8	2365	c.2130A>G	c.(2128-2130)caA>caG	p.Q710Q	TRPC4_uc010abv.3_Silent_p.Q285Q|TRPC4_uc001uwt.3_Silent_p.Q705Q|TRPC4_uc001uws.3_Silent_p.Q705Q|TRPC4_uc010tey.2_Silent_p.Q705Q|TRPC4_uc010abw.3_Silent_p.Q532Q|TRPC4_uc010aby.3_Silent_p.Q640Q	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	705	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTACTTGGTATTGGTGATGTC	0.338000													22	52					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:236306076T>G	uc001hxq.3	+	0	245	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	52						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTACACCGTGTTCTACGCGCT	0.652000													9	30					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:18897449G>C	uc002nke.3	-	10	1183	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	COMP_uc002nkd.3_Missense_Mutation_p.Q350E|COMP_uc010xqj.2_Missense_Mutation_p.Q330E	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	383					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGTCGGCCTGGTTGCGGATC	0.577000													17	26					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:101893716C>A	uc002taz.2	-	6	1315	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	RNF149_uc002tax.2_Intron	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	Homo sapiens ring finger protein 149 (RNF149), mRNA.	396						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATGGGTCCTCCATGCCGAGA	0.458000													6	5					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525032	167525032	+	Splice_Site	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:167525032G>T	uc003ffa.4	+	6	1080	c.882_splice	c.e6-1	p.R294_splice	SERPINI1_uc003ffb.4_Splice_Site_p.R294_splice	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	294					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTCTCCAGGTTCACAGTGG	0.348000													5	35					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:86386011A>T	uc003ydk.2	+	2	502	c.322A>T	c.(322-324)Act>Tct	p.T108S		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	108					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TTCAGAGCATACTGTGGATAA	0.343000													19	33					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:65940437A>G	uc002jgf.3	+	19	6710	c.6649A>G	c.(6649-6651)Aca>Gca	p.T2217A	BPTF_uc002jge.3_Missense_Mutation_p.T2343A|BPTF_uc021uca.1_Missense_Mutation_p.T17A|BPTF_uc002jgg.3_Missense_Mutation_p.T17A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2343					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGGCAACAACAGCCACCAC	0.537000													31	40					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16630018	16630018	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:16630018C>G	uc002nei.1	-	16	2777	c.2703G>C	c.(2701-2703)aaG>aaC	p.K901N	MED26_uc002nee.2_Non-coding_Transcript|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.K440N	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	901					RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGGAGTAGCTCTTGTTCCTGC	0.642000													17	21					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:91338504T>A	uc001xys.2	-	16	2538	c.2323A>T	c.(2323-2325)Aca>Tca	p.T775S	RPS6KA5_uc010twi.1_Missense_Mutation_p.T696S	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	775					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTGGTGGGTGTAGTTTTACCG	0.502000													28	31					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:108214036G>A	uc001pkb.1	+	56	8741	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	ATM_uc009yxr.1_Missense_Mutation_p.G2786S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.G1438S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2786	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAATGAAGATGGTGCTCATAA	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	59					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:10445228G>A	uc003gmn.3	-	2	3212	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	ZNF518B_uc021xme.1_Missense_Mutation_p.R909C	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	909					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAGACAGCGGCTAGGTTCA	0.428000													20	51					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:103124148T>A	uc022ajr.1	-	61	10293	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	RELN_uc022ajq.1_Missense_Mutation_p.Q3378L|RELN_uc010liz.3_Missense_Mutation_p.Q3378L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3378					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCTTTGGCTGGTGCTGGGC	0.537000													42	154					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:17405251T>G	uc002ngb.4	-	3	1235	c.995A>C	c.(994-996)aAc>aCc	p.N332T		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	332							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGACACGTTGAAAGCGTT	0.642000													38	85					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281605	38281605	+	Silent	SNP	C	C	T	rs149048537		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:38281605C>T	uc001wuj.3	+	7	948	c.846C>T	c.(844-846)taC>taT	p.Y282Y	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Silent_p.Y185Y|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											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)		GACTCATCTACGTAGAACTAG	0.383000													13	28					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	614264	614264	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:614264G>T	uc002chk.3	+	1	1249	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	324	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGCAGGAGGGGGAGCTGGA	0.701000													6	0					0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:41301036G>C	uc002yyp.3	+	2	270	c.189G>C	c.(187-189)taG>taC	p.*63Y		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	0					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CTCAGTCCTAGTGGGAGAACC	0.468000													7	27					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147849	59147849	+	Silent	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:59147849A>T	uc009wab.2	-	7	890	c.867T>A	c.(865-867)ctT>ctA	p.L289L	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	289					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTGAGCTTGAAAGTGTTTCAT	0.348000													30	21					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:86160951A>T	uc001pbz.3	-	8	1365	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	ME3_uc001pca.3_Missense_Mutation_p.S371T|ME3_uc009yvk.3_Missense_Mutation_p.S371T|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGCCCTTTAGAGTCCACCATC	0.527000													26	62					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:57100120G>T	uc001njt.3	-	5	1014	c.747C>A	c.(745-747)gaC>gaA	p.D249E	SSRP1_uc010rjq.1_Missense_Mutation_p.D249E	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	249					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTGGCGCTGGTCCTTGTGGG	0.488000													11	18					0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:58525052G>A	uc002iys.1	-	12	1936	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*	APPBP2_uc010ddl.1_Nonsense_Mutation_p.Q479*	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	550					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGAATATTGCCGATCTCGC	0.448000													42	85					0	0	1	0	0
PRMT1	3276	broad.mit.edu	37	19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50187286C>G	uc010enf.2	+	5	644	c.515C>G	c.(514-516)tCc>tGc	p.S172C	PRMT1_uc021uxu.1_Missense_Mutation_p.S148C|PRMT1_uc002ppe.3_Missense_Mutation_p.S154C|PRMT1_uc021uxv.1_Missense_Mutation_p.S154C|PRMT1_uc010yba.2_Non-coding_Transcript	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	153						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCTACGAGTCCATGCTCAAC	0.607000													4	74					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670020	8670020	+	Silent	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:8670020C>A	uc002mkj.1	-	3	586	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687000													5	27					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:18941638T>C	uc003zni.2	-	2	768	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	FAM154A_uc010mip.2_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	140										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTCCCACCTTTATAAGTAGGC	0.493000													8	30					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:87968120C>A	uc011ccz.2	+	3	708	c.433C>A	c.(433-435)Cca>Aca	p.P145T	AFF1_uc011ccx.2_Missense_Mutation_p.P79T|AFF1_uc003hqh.2_Missense_Mutation_p.P145T|AFF1_uc011ccy.2_Missense_Mutation_p.P145T|AFF1_uc003hqj.4_Missense_Mutation_p.P138T|AFF1_uc003hqk.4_Missense_Mutation_p.P138T|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	138						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATGGCGCAGCCAAGAACTGA	0.572000													15	33					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:138655654C>T	uc003qhu.3	+	32	5842	c.5671C>T	c.(5671-5673)Cct>Tct	p.P1891S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1891					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGTCCAGCCTGTCAGCAA	0.572000													9	13					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:34074193C>T	uc002hjv.2	-	4	955	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	309					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGATGGTCATTGTAGGCT	0.612000													52	98					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:22929865G>T	uc001yus.3	+	5	643	c.539G>T	c.(538-540)aGt>aTt	p.S180I	CYFIP1_uc001yut.3_Missense_Mutation_p.S180I|CYFIP1_uc010aya.1_Missense_Mutation_p.S208I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	180					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAAGTGCAGTGTGAAGAAC	0.572000													16	39					0	0	1	0	0
LOC387647	387647	broad.mit.edu	37	10	29710360	29710360	+	RNA	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:29710360C>T	uc001ium.2	+	2		c.1127C>T			LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|LOC387647_uc001iun.2_Non-coding_Transcript					Homo sapiens patched domain containing 3 pseudogene (LOC387647), non-coding RNA.																		TCTTCCTCGTCCCTCCCACCT	0.488000													7	18					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:44506572A>T	uc002xqd.3	+	1	1620	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ZSWIM3_uc010zxg.2_Missense_Mutation_p.I453F	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	459							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCTTTTGGAATCTGTGGAGA	0.542000													14	21					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:109824258G>A	uc001dxj.3	-	3	648	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Missense_Mutation_p.P168S|PSRC1_uc001dxd.3_Missense_Mutation_p.P168S|PSRC1_uc001dxf.3_Missense_Mutation_p.P168S	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	168	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		ATGTTGGAGGGCCTCTTTCCA	0.567000													19	35					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47773663	47773663	+	Splice_Site	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:47773663G>A	uc010xym.2	+	9	1110	c.903_splice	c.e9-1	p.M301_splice		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	301										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTTCCCCCAGGTTCAAGGAT	0.592000													8	24					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:70959286T>A	uc002asr.3	-	15	3841	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_uc010uke.2_Missense_Mutation_p.K1137I|UACA_uc002asq.3_Missense_Mutation_p.K1233I|UACA_uc010bin.1_Missense_Mutation_p.K1221I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1246						cytoskeleton|extracellular region		p.C1245S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGGCCAATTTTTCATTTAA	0.328000													23	36					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:45994012T>G	uc002zfk.1	+	0	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	126	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.C125S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCTGTGTGCCCGTCTGC	0.642000													34	252					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:159437759G>T	uc003lxu.3	+	1	274	c.224G>T	c.(223-225)gGa>gTa	p.G75V		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	75					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGGAGCCAGGAGCGGACAAG	0.463000													5	15					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:92086237G>A	uc001pdj.4	+	0	976	c.959G>A	c.(958-960)tGg>tAg	p.W320*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	320	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGAAAGTGGTTGAATGAG	0.448000										TCGA Ovarian(4;0.039)			4	14					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499680	66499680	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:66499680C>A	uc004aee.1	+	0	490	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TCATGTTAACCCCTTCCCAGG	0.582000													6	26					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:48266865C>A	uc003toq.2	+	5	499	c.475C>A	c.(475-477)Ctc>Atc	p.L159I	ABCA13_uc003top.2_Missense_Mutation_p.L159I|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	159					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGATGGATCTCAATAAGAC	0.388000													4	75					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022392	120022392	+	Silent	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:120022392T>C	uc003ksq.3	+	1	1066	c.903T>C	c.(901-903)acT>acC	p.T301T	PRR16_uc003ksp.3_Silent_p.T278T|PRR16_uc003ksr.3_Silent_p.T231T	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	301										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTCAACCACTACAACCGTGT	0.373000													18	19					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:61908885A>T	uc002jcb.3	+	9	1070	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PSMC5_uc010ddy.3_Missense_Mutation_p.K307M|PSMC5_uc002jcd.3_Missense_Mutation_p.K322M	NM_002805	NP_002796	P62195	PRS8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.	330					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GACATTTTGAAGATTCATTCT	0.542000													30	65					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:46976632A>C	uc001cpx.3	+	2	389	c.374A>C	c.(373-375)aAg>aCg	p.K125T	DMBX1_uc001cpw.3_Missense_Mutation_p.K120T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	125	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGCCGGGCCAAGTTCCGGAAG	0.627000													8	25					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128064	3128064	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:3128064C>T	uc021vzx.1	-	0	1653	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.K551K	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	551					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTCATATCCTTCTCTGCTA	0.448000													10	35					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14887554	14887554	+	Silent	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:14887554G>C	uc002mzp.1	-	1	471	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_uc010xnw.1_Silent_p.V5V|EMR2_uc002mzo.1_Silent_p.V5V|EMR2_uc002mzq.1_Silent_p.V5V|EMR2_uc002mzr.1_Silent_p.V5V|EMR2_uc002mzs.1_Silent_p.V5V|EMR2_uc002mzt.1_Silent_p.V5V|EMR2_uc002mzu.1_Silent_p.V5V|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	5					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGACGAGAAAGACGCGGCCTC	0.652000													4	13					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62384051	62384051	+	Silent	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:62384051C>T	uc002ygv.2	-	3	1587	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGTGTGGCGCTTCATGTGCT	0.701000													7	10					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:35275428G>C	uc001ziw.3	-	2	562	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	ZNF770_uc021siy.1_Missense_Mutation_p.L70V	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTCTCCAGATGAACTAGT	0.363000													6	21					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:61513601T>C	uc002ydr.2	-	15	4019	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	DIDO1_uc002yds.2_Missense_Mutation_p.Q1236R	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1236					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCCGACTGCGGGACTGT	0.592000													44	110					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:12374350A>C	uc001atv.3	+	29	7255	c.7114A>C	c.(7114-7116)Acc>Ccc	p.T2372P	VPS13D_uc001atw.3_Missense_Mutation_p.T2372P|VPS13D_uc001atx.3_Missense_Mutation_p.T1560P|VPS13D_uc001aty.1_Missense_Mutation_p.T110P	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2372					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCAGCACCACCCAAGGGTC	0.502000													3	12					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:9317890G>T	uc001qvl.3	-	18	2361	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	PZP_uc009zgl.3_Missense_Mutation_p.L647M|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.L110M	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562000													20	58					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:9934873A>T	uc010uym.2	-	6	1727	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_uc002czo.4_Missense_Mutation_p.F473I|GRIN2A_uc010uyn.2_Missense_Mutation_p.F316I|GRIN2A_uc002czr.4_Missense_Mutation_p.F473I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	473					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGTAAGTAAACTTCACAGTT	0.403000													31	70					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44128012	44128012	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:44128012C>T	uc002ikc.3	-	6	2378	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	KANSL1_uc002ikd.3_Missense_Mutation_p.C636Y|KANSL1_uc010dav.3_Missense_Mutation_p.C636Y	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	636						MLL1 complex	protein binding										GCCTGAACCACACAGTGCGCA	0.493000													4	19					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:179264557G>A	uc003mla.3	-	6	910	c.866C>T	c.(865-867)aCa>aTa	p.T289I	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Missense_Mutation_p.T234I|C5orf45_uc003mlb.3_Missense_Mutation_p.T155I|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	289										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACGGGGTGTGTGGCCCGAGG	0.662000													34	66					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:2892339G>C	uc002kln.3	+	3	2373	c.2214G>C	c.(2212-2214)tgG>tgC	p.W738C		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	738					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCAGCCTGTGGAACTGTGTCA	0.507000													11	13					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157803172	157803172	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:157803172delG	uc003qqt.3	+	0	616	c.119delG	c.(118-120)tggfs	p.W40fs	ZDHHC14_uc003qqs.3_Frame_Shift_Del_p.W40fs	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	40						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGGAAATGGGAGGTGTTC	0.587													4	9	---	---	---	---					
SYPL1	6856	broad.mit.edu	37	7	105739618	105739619	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:105739618_105739619insT	uc003vdp.3	-	2	315_316	c.233_234insA	c.(232-234)tttfs	p.F78fs	SYPL1_uc003vdo.3_Frame_Shift_Ins_p.F60fs	NM_006754	NP_874384	Q16563	SYPL1_HUMAN	Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA.	78	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATGGATAACCAAAAGTAGCTGT	0.351													9	56	---	---	---	---					
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:248252_248254delGAG	uc001qhw.2	+	3	1723_1725	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.700													2	4	---	---	---	---					
RBMS2	5939	broad.mit.edu	37	12	56915827	56915827	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:56915827delC	uc001sln.2	+	0	219	c.20delC	c.(19-21)tccfs	p.S7fs	RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	7					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TCCGTGACTTCCAGGCCCGGG	0.478													20	51	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50156709_50156711delGGA	uc002poq.3	+	6	3187_3189	c.3063_3065delGGA	c.(3061-3066)gcggag>gcg	p.E1039del		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1039	Glu-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGGTGGGGCggaggaggaggag	0.655													2	4	---	---	---	---					
ODZ1	10178	broad.mit.edu	37	X	123699358	123699372	+	In_Frame_Del	DEL	GCAAATTCCTCTTGA	-	-			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:123699358_123699372delGCAAATTCCTCTTGA	uc010nqy.3	-	11	2180_2194	c.2116_2130delTCAAGAGGAATTTGC	c.(2116-2130)tcaagaggaatttgcdel	p.SRGIC706del	ODZ1_uc011muj.2_In_Frame_Del_p.SRGIC705del|ODZ1_uc004euj.3_In_Frame_Del_p.SRGIC706del	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	706	EGF-like 6.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTTCACACTGGCAAATTCCTCTTGAGCAGACTCCA	0.442													4	3	---	---	---	---					
