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
LAMC3	10319	broad.mit.edu	37	9	133920995	133920995	+	Silent	SNP	C	C	T	rs143375693	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:133920995C>T	ENST00000361069.4	+	8	1600	c.1467C>T	c.(1465-1467)tgC>tgT	p.C489C	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	489	Laminin EGF-like 5; first part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.C489C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAAGGTGTGCGCGTCCACTG	0.597000													4	116					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88904043	88904043	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:88904043C>T	ENST00000268695.5	-	5	641	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GALNS_ENST00000542788.1_Missense_Mutation_p.E110K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	185			E -> G (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CCAACCATCTCCCAGTCCCTG	0.607000													18	94					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740413	121740413	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:121740413C>T	ENST00000452319.1	+	11	1700	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.A547V|GLI2_ENST00000314490.11_Missense_Mutation_p.A219V			P10070	GLI2_HUMAN	GLI family zinc finger 2	547					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTCCAACGCCTCGGACCGC	0.632000													23	89					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895431	42895431	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:42895431T>G	ENST00000399770.2	+	1	148	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	50					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCCAGTATCTGTGGGATAGA	0.507000													12	181					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553639	106553639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:106553639C>G	ENST00000369096.4	+	5	1838	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	PRDM1_ENST00000369089.3_Nonsense_Mutation_p.S401*|PRDM1_ENST00000369091.2_Nonsense_Mutation_p.S499*	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	535					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGCTACCTCAGCAGCGATG	0.587000			"""D, N, Mis, F, S"""		DLBCL								22	77					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102020025	102020025	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:102020025T>C	ENST00000354105.4	-	4	325	c.239A>G	c.(238-240)tAt>tGt	p.Y80C		NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	80							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ATCCTGGAAATATTTTACTGT	0.338000													16	90					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723098	21723098	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:21723098G>A	ENST00000399496.3	+	2	185	c.20G>A	c.(19-21)aGa>aAa	p.R7K	CABYR_ENST00000415309.2_Missense_Mutation_p.R7K|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Missense_Mutation_p.R7K|CABYR_ENST00000399499.1_Missense_Mutation_p.R7K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	7					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCAAAGCCCAGACTTGTCGTA	0.383000													42	84					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598931	153598931	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153598931C>T	ENST00000368699.1	-	4	521	c.18G>A	c.(16-18)ctG>ctA	p.L6L	S100A13_ENST00000339556.4_Silent_p.L6L|S100A13_ENST00000392623.1_Silent_p.L6L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Silent_p.L6L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Silent_p.L6L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	6					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTAGCTCTGTCAGTGGTTCTG	0.557000													38	225					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128771	51128771	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:51128771G>A	ENST00000338916.4	-	6	2086	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	SYT3_ENST00000544769.1_Missense_Mutation_p.R485W|SYT3_ENST00000600079.1_Missense_Mutation_p.R485W|SYT3_ENST00000593901.1_Missense_Mutation_p.R485W	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	485	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTTTTCCGCTTCTTCAGA	0.577000													8	22					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													4	87					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789665	26789665	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr13:26789665C>T	ENST00000381588.4	-	5	1106	c.354G>A	c.(352-354)cgG>cgA	p.R118R	RNF6_ENST00000346166.3_Silent_p.R118R|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000381570.3_Silent_p.R118R|RNF6_ENST00000468480.1_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	118					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCCTGTGCGCCGAAAGGTGT	0.428000													23	62					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	108					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602650	107602650	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:107602650G>A	ENST00000374736.3	-	9	1358	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	322					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACCAGTTGAGAGACTTGATC	0.517000													12	72					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999886	45999886	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:45999886G>T	ENST00000400372.1	-	1	595	c.570C>A	c.(568-570)ccC>ccA	p.P190P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	190	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGAGCAGACGGGCACACAGC	0.632000													7	418					0.0293803	0.0299264	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145594178	145594178	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:145594178C>G	ENST00000334163.3	-	14	1544	c.1384G>C	c.(1384-1386)Gaa>Caa	p.E462Q	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	462					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGAGATTTTTCTAGTAGACGC	0.473000													18	86					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362858	55362858	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:55362858G>A	ENST00000290552.7	+	5	2300	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GACCCTTCCGGATCGGAAGAA	0.642000													19	80					0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52729490	52729490	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:52729490C>G	ENST00000407584.3	-	9	1609	c.759G>C	c.(757-759)tgG>tgC	p.W253C	GLT8D1_ENST00000394783.3_Missense_Mutation_p.W253C|GLT8D1_ENST00000266014.5_Missense_Mutation_p.W253C|GLT8D1_ENST00000478968.2_Missense_Mutation_p.W253C|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000491606.1_Missense_Mutation_p.W253C	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	253						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGTCGTTTCCATTCCGTCA	0.363000													28	90					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788617	3788617	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:3788617C>A	ENST00000262367.5	-	26	5146	c.4337G>T	c.(4336-4338)cGc>cTc	p.R1446L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446H(4)|p.R1446L(3)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACGGCTGTGCGGAGGCAACG	0.408000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	20					4.68919e-08	5.09856e-08	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38406325	38406325	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:38406325G>A	ENST00000322350.5	+	7	1156	c.810G>A	c.(808-810)ttG>ttA	p.L270L	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.L36L|EGFLAM_ENST00000354891.3_Silent_p.L270L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	270						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTAGATTTGGATATTTCCT	0.463000													8	75					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721364	183721364	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:183721364G>A	ENST00000511685.1	+	28	8083	c.7960G>A	c.(7960-7962)Gag>Aag	p.E2654K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2654K					teneurin transmembrane protein 3																		GACGGAGGGCGAGAAGCGGCA	0.741000													5	23					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629828	1629828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:1629828C>T	ENST00000381580.1	-	2	380	c.201G>A	c.(199-201)atG>atA	p.M67I	SIRPG_ENST00000381583.2_Missense_Mutation_p.M100I|SIRPG_ENST00000216927.4_Missense_Mutation_p.M100I|SIRPG_ENST00000303415.3_Missense_Mutation_p.M100I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M100I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	100	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGGAAAAGTCCATGTTGTTTC	0.473000													47	135					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101620744	101620744	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:101620744G>A	ENST00000311812.2	-	8	809	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SNX31_ENST00000428383.2_Missense_Mutation_p.A121V	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	220					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)			CAAATCTACCGCCACCCTGCA	0.512000													18	42					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995261	140995261	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:140995261C>T	ENST00000285879.4	+	4	2357	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	691							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCTGTCTCCTCTCCAAAT	0.567000										HNSCC(15;0.026)			35	104					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26093381	26093381	+	Silent	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:26093381C>G	ENST00000357618.5	+	5	1049	c.927C>G	c.(925-927)gtC>gtG	p.V309V	HFE_ENST00000488199.1_Silent_p.V207V|HFE_ENST00000349999.4_Silent_p.V221V|HFE_ENST00000461397.1_Silent_p.V295V|HFE_ENST00000352392.4_Silent_p.V37V|HFE_ENST00000309234.6_Silent_p.V309V|HFE_ENST00000397022.3_Silent_p.V286V|HFE_ENST00000470149.1_Silent_p.V306V|HFE_ENST00000353147.5_Silent_p.V129V|HFE_ENST00000336625.8_Silent_p.V203V|HFE_ENST00000317896.7_Silent_p.V217V	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	309					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTGGAGTCATCAGTGGAA	0.448000									Hemochromatosis				12	69					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17750927	17750927	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:17750927G>A	ENST00000377524.3	+	13	1577	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	STAM_ENST00000540523.1_Silent_p.Q343Q	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	454					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCCTAGTCAGCAGACTCAGG	0.502000													34	143					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52841612	52841612	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:52841612T>A	ENST00000375503.3	+	1	385	c.22T>A	c.(22-24)Tat>Aat	p.Y8N	XAGE5_ENST00000351072.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000375501.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000425386.1_Missense_Mutation_p.Y8N			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	8										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AGGAAGAAGATATAGACCAAG	0.458000													56	40					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453491	9453491	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:9453491G>A	ENST00000378501.2	+	33	3384	c.3369G>A	c.(3367-3369)aaG>aaA	p.K1123K	PLCB4_ENST00000278655.4_Silent_p.K1123K|PLCB4_ENST00000414679.2_Silent_p.K1135K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.K1123K|PLCB4_ENST00000334005.3_Silent_p.K1123K|PLCB4_ENST00000378473.3_Silent_p.K1135K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1123					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGAAAGAAAGAGAGTAAGTA	0.328000													15	82					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47375993	47375993	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:47375993T>C	ENST00000285039.7	-	32	4558	c.4259A>G	c.(4258-4260)gAg>gGg	p.E1420G	MYO5B_ENST00000324581.6_Missense_Mutation_p.E535G|MYO5B_ENST00000592688.1_5'UTR|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1420					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGCTTCCTCTCATTCTTTTC	0.473000													16	260					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314236	54314236	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:54314236A>G	ENST00000324134.6	-	3	845	c.677T>C	c.(676-678)cTg>cCg	p.L226P	NLRP12_ENST00000351894.4_Missense_Mutation_p.L226P|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226P|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226P|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226P|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226P|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226P|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGTGTGCCAGCATGGACTT	0.582000													13	78					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161172214	161172214	+	Silent	SNP	C	C	A	rs139722814		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:161172214C>A	ENST00000392179.4	+	1	278	c.39C>A	c.(37-39)gtC>gtA	p.V13V	NDUFS2_ENST00000367993.3_Silent_p.V13V|NDUFS2_ENST00000476409.2_5'UTR	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	13					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCCGGGGCGTCGCGGCCCAGG	0.662000													4	49					0.014758	0.0150884	1	1	0
ZNF346	23567	broad.mit.edu	37	5	176471400	176471400	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:176471400G>T	ENST00000503039.1	+	5	462	c.458G>T	c.(457-459)aGa>aTa	p.R153I	ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I|ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000358149.3_Missense_Mutation_p.R128I			Q9UL40	ZN346_HUMAN	zinc finger protein 346	128						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGCAGCAGAAGCAAAGAC	0.522000													30	83					9.17885e-22	1.02653e-21	1	1	0
BMI1	648	broad.mit.edu	37	10	22616718	22616718	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:22616718G>A	ENST00000376663.3	+	5	818	c.313G>A	c.(313-315)Gat>Aat	p.D105N	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D248N	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TCCTTCTGCTGATGGTAAACC	0.358000													20	63					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12243221	12243221	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:12243221C>T	ENST00000256194.4	+	10	1525	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R413C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R413C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R413C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R413C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	413						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGGCTGTGCCCGTGGCTTCCT	0.542000													42	109					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992515	67992515	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:67992515A>T	ENST00000397942.3	+	2	927	c.611A>T	c.(610-612)cAc>cTc	p.H204L	SOCS6_ENST00000582322.1_Missense_Mutation_p.H204L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	204					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTGCATCTTCACCTGGATGAA	0.493000													34	55					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136926387	136926387	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:136926387G>A	ENST00000359015.4	-	19	2999	c.2639C>T	c.(2638-2640)cCa>cTa	p.P880L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P127L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	880	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCATAAAATGGGGGTTTTCC	0.413000													22	82					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199967	128199967	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:128199967G>T	ENST00000341105.2	-	6	1669	c.1338C>A	c.(1336-1338)ttC>ttA	p.F446L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.F432L|GATA2_ENST00000487848.1_Missense_Mutation_p.F446L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	446					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CGGAGTGGCTGAAGGGCGGGA	0.657000			Mis		AML(CML blast transformation)								14	57					3.41278e-10	3.72551e-10	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77323202	77323202	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:77323202C>T	ENST00000282849.5	-	22	3927	c.3509G>A	c.(3508-3510)cGa>cAa	p.R1170Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1170	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1170L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTACAGGCTCGTAGCACCGG	0.502000													52	171					0	0	1	0	0
GID4	79018	broad.mit.edu	37	17	17962245	17962245	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:17962245G>A	ENST00000268719.4	+	4	843	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_024052.4	NP_076957.3			GID complex subunit 4									p.E224*(1)									TGATTATGAAGAGCTGAAGAA	0.468000													13	44					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789600	52789600	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:52789600C>T	ENST00000216862.3	-	2	690	c.297G>A	c.(295-297)atG>atA	p.M99I	CYP24A1_ENST00000395955.3_Missense_Mutation_p.M99I	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	99					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AACCCAACTTCATGCGGAAAA	0.632000													17	95					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45525432	45525432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:45525432G>A	ENST00000221452.8	+	5	776	c.626G>A	c.(625-627)aGg>aAg	p.R209K	RELB_ENST00000505236.1_Missense_Mutation_p.R206K|RELB_ENST00000540120.1_Missense_Mutation_p.R209K	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	209	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGCATCTGCAGGGTGCGGCTC	0.657000													34	54					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038152	43038152	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:43038152G>A	ENST00000267890.6	-	15	3684	c.3576C>T	c.(3574-3576)ccC>ccT	p.P1192P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1192	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGAGTGGCTGGGAGGTGACT	0.597000													18	73					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180659709	180659709	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:180659709G>C	ENST00000315073.5	+	3	1670	c.960G>C	c.(958-960)ctG>ctC	p.L320L	TRIM41_ENST00000351937.5_Silent_p.L320L	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	320						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGCGACTGACACGGTTTC	0.617000													10	30					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48577056	48577056	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:48577056C>A	ENST00000262384.3	-	7	2686	c.2450G>T	c.(2449-2451)gGa>gTa	p.G817V	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	817					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGAAGGGGCTCCCTGAATCCG	0.642000													3	24					6.4e-05	6.71877e-05	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52537623	52537623	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:52537623G>A	ENST00000261839.7	-	18	2267	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	702	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTGGTCATGAGAATGCCGT	0.498000													16	100					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140289794	140289794	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:140289794G>A	ENST00000340951.4	-	2	211	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.P6S|EXD3_ENST00000465160.2_Missense_Mutation_p.P6S|EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	6					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCACCAGCGGGATCTCCTGGG	0.657000													10	49					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188592259	188592259	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:188592259G>A	ENST00000312675.4	+	11	2077	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPP_ENST00000543006.1_Missense_Mutation_p.D611N	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	611					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCGAGCACTGACCTTTAGAT	0.498000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								7	98					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819267	98819267	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:98819267G>T	ENST00000266058.4	-	11	1280	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	SLIT1_ENST00000371041.3_Silent_p.I345I|SLIT1_ENST00000371070.4_Silent_p.I345I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	345					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.I345I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAATCTCAGCGATCTGATTGT	0.612000													4	68					0.150653	0.152321	1	1	0
DSTYK	25778	broad.mit.edu	37	1	205116748	205116748	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:205116748T>C	ENST00000367162.3	-	13	2758	c.2728A>G	c.(2728-2730)Atg>Gtg	p.M910V	DSTYK_ENST00000367161.3_Missense_Mutation_p.M865V|DSTYK_ENST00000367160.4_Missense_Mutation_p.M569V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	910						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCGATTCATGATGCCCTGG	0.498000													85	75					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102020035	102020035	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:102020035T>G	ENST00000354105.4	-	4	315	c.229A>C	c.(229-231)Aca>Cca	p.T77P		NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	77							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TATTTTACTGTTTCCTGGTTA	0.348000													15	86					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128481	152128481	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152128481G>C	ENST00000316073.3	-	3	1158	c.1094C>G	c.(1093-1095)tCc>tGc	p.S365C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	365	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGTAGTGGGAACCCTGGCC	0.473000													192	1599					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:72663998T>G	ENST00000425256.1	-	0	902																											ATAGCCGGGGTCCTTGAATAC	0.488000													3	61					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969703	2969703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:2969703C>T	ENST00000396946.4	-	12	1979	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	526					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCGTGCCCCTTGGCTGTC	0.602000			Mis		DLBCL								11	65					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611673	44611673	+	Silent	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:44611673T>C	ENST00000273320.3	+	6	1500	c.1071T>C	c.(1069-1071)taT>taC	p.Y357Y	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.Y357Y|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATGACAAATATAAGGAAGTTG	0.383000													26	139					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96498878	96498878	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:96498878C>G	ENST00000283109.3	-	10	1614	c.1546G>C	c.(1546-1548)Gct>Cct	p.A516P	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	516	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CGTCTGACAGCTGATTTTTGC	0.363000													5	42					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569784	52569784	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:52569784G>A	ENST00000389534.4	-	7	1810	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZNF841_ENST00000359973.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.H451Y|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTCCAGTATGAATTATCTGG	0.408000													8	30					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619153	64619153	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:64619153A>T	ENST00000498707.1	-	14	2512	c.2170T>A	c.(2170-2172)Tgc>Agc	p.C724S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C696S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	724	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTACCCGGCAAAGGCCCTGG	0.488000													15	154					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725468	41725468	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:41725468C>T	ENST00000400454.1	-	5	1335	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	286	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCTGAGTCCGAGGGGCGAA	0.527000													14	116					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770225	31770225	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:31770225G>C	ENST00000240587.4	-	2	801	c.474C>G	c.(472-474)agC>agG	p.S158R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	158	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgccacagctgctgctgctgc	0.622000													7	45					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70867962	70867962	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:70867962C>T	ENST00000393567.2	-	79	13657	c.13507G>A	c.(13507-13509)Gaa>Aaa	p.E4503K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4503										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAACACTTCCTCAGAGAAG	0.557000													15	49					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723370	21723370	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:21723370G>A	ENST00000399496.3	+	3	357	c.192G>A	c.(190-192)caG>caA	p.Q64Q	CABYR_ENST00000415309.2_Silent_p.Q64Q|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Silent_p.Q64Q|CABYR_ENST00000399499.1_Silent_p.Q64Q	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	64					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATTTCATCAGATTAAAGGTA	0.289000													7	9					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661040	44661040	+	Missense_Mutation	SNP	G	G	A	rs146772061	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:44661040G>A	ENST00000426739.2	+	6	1129	c.871G>A	c.(871-873)Gat>Aat	p.D291N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D291N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTCAAATGTGATACATGTGG	0.423000													31	199					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240447	3240447	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:3240447G>A	ENST00000217939.6	-	5	3433	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1093						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGCAAAGTGATGGATTTGC	0.488000													16	30					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076507	154076507	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:154076507G>C	ENST00000368559.3	-	13	1871	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	NUP210L_ENST00000271854.3_Silent_p.V600V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	600						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAAGAGTAAAGACTCCTTGTT	0.353000													4	109					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3300970	3300970	+	Silent	SNP	C	C	G	rs61735439	byFrequency	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:3300970C>G	ENST00000322608.2	-	1	734	c.735G>C	c.(733-735)ctG>ctC	p.L245L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						ACACCACAGACAGGTGGGAGC	0.458000													4	107					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412305	63412305	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:63412305C>T	ENST00000330258.3	-	2	1134	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	AMER1_ENST00000403336.1_Missense_Mutation_p.E288K|AMER1_ENST00000374869.3_Missense_Mutation_p.E288K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCCTGTTTCTGGGCTATGG	0.562000													24	125					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132249921	132249921	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:132249921A>G	ENST00000260818.6	+	55	6853	c.6605A>G	c.(6604-6606)cAa>cGa	p.Q2202R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2202							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTGAGTCACAAACAGCAGGA	0.423000													25	71					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156085052	156085052	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:156085052G>A	ENST00000368300.4	+	1	555	c.343G>A	c.(343-345)Gag>Aag	p.E115K	LMNA_ENST00000368299.3_Missense_Mutation_p.E115K|LMNA_ENST00000361308.4_Missense_Mutation_p.E115K|LMNA_ENST00000347559.2_Missense_Mutation_p.E115K|LMNA_ENST00000368301.2_Missense_Mutation_p.E115K	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	115	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGAGTTTAAGGAGCTGAAAGC	0.697000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				12	23					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421180	37421180	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:37421180C>T	ENST00000374660.1	+	4	454	c.355C>T	c.(355-357)Cca>Tca	p.P119S	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P119S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P119S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	175						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGCCTCACACCACTTTTACT	0.289000													8	43					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081508	126081508	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:126081508G>C	ENST00000298317.4	-	1	79	c.26C>G	c.(25-27)tCg>tGg	p.S9W	RPUSD4_ENST00000533628.1_Missense_Mutation_p.S9W|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	9					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CCAGGGGCCCGACGCGCTCCA	0.642000													35	127					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352121	15352121	+	RNA	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:15352121C>T	ENST00000344693.5	-	0	637					NR_027270.1																						TGTGGATCTTCTGCAGTTCCG	0.637000													4	47					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038422	159038422	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:159038422G>T	ENST00000368130.4	-	3	620	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	111					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GATGGCTGCAGATGCAGCAGG	0.418000													18	110					5.35267e-07	5.72903e-07	1	1	0
BCL7B	9275	broad.mit.edu	37	7	72954277	72954277	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:72954277G>T	ENST00000223368.2	-	4	794	c.371C>A	c.(370-372)gCa>gAa	p.A124E	BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	124							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGTGTGCTGGGCTCAG	0.602000													4	53					0.184627	0.185304	1	1	0
CYP26C1	340665	broad.mit.edu	37	10	94828376	94828376	+	Silent	SNP	C	C	T	rs140502479	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:94828376C>T	ENST00000285949.5	+	6	1491	c.1491C>T	c.(1489-1491)atC>atT	p.I497I		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	497					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CGGTGCCCATCGTGCACCCAG	0.662000													8	16					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723081	21723081	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:21723081G>A	ENST00000399496.3	+	2	168	c.3G>A	c.(1-3)atG>atA	p.M1I	CABYR_ENST00000415309.2_Start_Codon_SNP_p.M1I|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000581397.1_Start_Codon_SNP_p.M1I|CABYR_ENST00000399499.1_Start_Codon_SNP_p.M1I	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	1					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGCCAAAATGATTTCTTCAA	0.363000													39	88					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645504	98645504	+	Splice_Site	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:98645504G>A	ENST00000361125.1	-	11	1352	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	SMURF1_ENST00000361368.2_Splice_Site_p.H319Y|AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	345					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCACTGGTGACTTGAGAAG	0.602000													40	130					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249711	110249711	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:110249711C>G	ENST00000374672.4	-	3	1437	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	322	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						AGCACTTCCTCAAGACCCAGG	0.687000													4	28					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639573	94639573	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:94639573G>A	ENST00000260526.6	-	23	3820	c.3638C>T	c.(3637-3639)tCa>tTa	p.S1213L		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1213					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGGACAAGCTGATGCTTTGTC	0.537000													28	72					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756195	52756195	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:52756195C>T	ENST00000257901.3	-	7	1213	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	KRT85_ENST00000544265.1_Missense_Mutation_p.D168N	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	380	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCGGGCATCGCTGAGGGCC	0.617000													24	87					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34916671	34916671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:34916671C>T	ENST00000304718.4	+	5	803	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	163					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGAGATGTCAGTTGCACTC	0.303000													14	30					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874099	151874099	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:151874099C>G	ENST00000355193.2	-	38	8657	c.8439G>C	c.(8437-8439)caG>caC	p.Q2813H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2813H					lysine (K)-specific methyltransferase 2C																		TGGATTTTTTCTGTGGTGAAT	0.328000													20	84					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607978	84607978	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:84607978G>C	ENST00000344803.2	+	4	2640	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GTCTCTTCCTGAGAAATCCCA	0.438000													16	58					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220928391	220928391	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:220928391C>T	ENST00000366913.3	+	2	573	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MARC2_ENST00000359316.2_Silent_p.F125F	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	125						mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GCCTGATCTTCAGGGCTCCAG	0.522000													41	146					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961591	41961591	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:41961591G>A	ENST00000298919.7	+	9	1082	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E492K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E234K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	492	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAGCTGGATGAAGGCTGGCT	0.398000													11	57					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592000													61	283					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	101981761	101981761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:101981761C>G	ENST00000282441.5	+	1	570	c.182C>G	c.(181-183)tCg>tGg	p.S61W	YAP1_ENST00000345877.2_Missense_Mutation_p.S61W|YAP1_ENST00000531439.1_Missense_Mutation_p.S61W|YAP1_ENST00000526343.1_Missense_Mutation_p.S61W|YAP1_ENST00000537274.1_Missense_Mutation_p.S61W	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	61					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CGCGGGGACTCGGAGACCGAC	0.741000													3	25					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21713389	21713389	+	Splice_Site	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:21713389A>G	ENST00000358491.4	+	3	338		c.e3-1		ZNF429_ENST00000597078.1_Splice_Site|ZNF429_ENST00000594022.1_Splice_Site	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATAAAACAGGTATTGCTG	0.333000													12	52					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971040	118971040	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:118971040C>A	ENST00000409993.2	-	6	2126	c.575G>T	c.(574-576)gGc>gTc	p.G192V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.G192V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.G85V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	192					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCCTCTAGGCCGTTAATTCC	0.507000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	106					1.67305e-13	1.84845e-13	1	1	0
KPNA5	3841	broad.mit.edu	37	6	117053301	117053301	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:117053301C>G	ENST00000368564.1	+	14	1583	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	KPNA5_ENST00000356348.1_Missense_Mutation_p.L479V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	476					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TATAACAGGTCTGGATAAAAT	0.244000													13	38					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522556	67522556	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:67522556G>A	ENST00000521381.1	+	2	669	c.53G>A	c.(52-54)aGa>aAa	p.R18K	PIK3R1_ENST00000274335.5_Missense_Mutation_p.R18K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R18K|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R18K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	18	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAGGAAAGAGAAGAAGAT	0.448000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			30	90					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88039797	88039797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:88039797C>G	ENST00000393207.1	+	6	778	c.557C>G	c.(556-558)tCt>tGt	p.S186C	BANP_ENST00000355022.4_Missense_Mutation_p.S155C|BANP_ENST00000355163.5_Missense_Mutation_p.S161C|BANP_ENST00000286122.7_Missense_Mutation_p.S186C|BANP_ENST00000479780.2_Missense_Mutation_p.S155C|BANP_ENST00000538234.1_Missense_Mutation_p.S194C|BANP_ENST00000393208.2_Missense_Mutation_p.S155C	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	186	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCAGCGACTCTGTGTCCAGC	0.662000													17	131					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619154	64619154	+	Silent	SNP	A	A	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:64619154A>C	ENST00000498707.1	-	14	2511	c.2169T>G	c.(2167-2169)ctT>ctG	p.L723L	ADAMTS9_ENST00000295903.4_Silent_p.L695L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	723	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACCCGGCAAAGGCCCTGGA	0.488000													15	156					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307816	46307816	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:46307816G>A	ENST00000221538.3	-	3	1489	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	RSPH6A_ENST00000600188.1_Silent_p.I185I|RSPH6A_ENST00000597055.1_Silent_p.I449I	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	449						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGGCGTTCACGATCTGGGCTG	0.622000													30	96					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57935322	57935322	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:57935322C>T	ENST00000564448.1	-	29	2952	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	970					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGTCAAAGATCATCTGCCGGT	0.572000													19	132					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671863	49671863	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:49671863G>A	ENST00000561648.1	-	4	1253	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	ZNF423_ENST00000262383.2_Silent_p.D400D|ZNF423_ENST00000562871.1_Silent_p.D340D|ZNF423_ENST00000562520.1_Silent_p.D340D|ZNF423_ENST00000563137.2_Silent_p.D340D|ZNF423_ENST00000535559.1_Silent_p.D283D|ZNF423_ENST00000567169.1_Silent_p.D283D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	400					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGCCCTGCCCGTCATCCCGCA	0.632000													8	67					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062361	76062361	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:76062361G>A	ENST00000260045.3	-	5	1938	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	611					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTTGTCCCATGACTGAGGGTA	0.428000													43	120					0	0	1	0	0
C8orf37	157657	broad.mit.edu	37	8	96275953	96275953	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:96275953C>T	ENST00000286688.5	-	2	216	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	69										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCAAGTATTTCATTAATAAGA	0.313000													18	32					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360261	71360261	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:71360261C>T	ENST00000244230.2	+	2	675	c.323C>T	c.(322-324)cCa>cTa	p.P108L	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.P108L|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	108					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGTCTTCTCCCAGAGAGTGAA	0.408000													9	39					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253312	174253312	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:174253312C>T	ENST00000296503.5	-	5	1422	c.549G>A	c.(547-549)aaG>aaA	p.K183K	HMGB2_ENST00000438704.2_Silent_p.K183K|HMGB2_ENST00000446922.2_Silent_p.K183K			P26583	HMGB2_HUMAN	high mobility group box 2	183					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		gttcgttcttcttcttTGAGC	0.428000													13	51					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653075	153653075	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153653075G>A	ENST00000368680.3	+	2	1292	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	274					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTTCCACCTGGATATCTTTGG	0.597000													13	80					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892261	11892261	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:11892261G>A	ENST00000357901.4	+	4	1724	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	ZNF441_ENST00000454339.2_Missense_Mutation_p.R474K	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGCTTCAGGTCTTCCAGT	0.423000													28	58					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34097869	34097869	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:34097869G>A	ENST00000397527.1	+	34	7771	c.7051G>A	c.(7051-7053)Gaa>Aaa	p.E2351K	CEP250_ENST00000342580.4_Missense_Mutation_p.E2295K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2351					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTGTGTGGCTGAACTGCAGAA	0.522000													28	52					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141561491	141561491	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:141561491C>T	ENST00000220592.5	-	11	1426	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R	AGO2_ENST00000519980.1_Silent_p.R438R	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ACTGCTTGTTCCGCATGTCCC	0.537000													26	144					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162380432	162380432	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:162380432C>G	ENST00000306100.5	-	14	2084	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	FSTL5_ENST00000427802.2_Missense_Mutation_p.D540H|FSTL5_ENST00000536695.1_Missense_Mutation_p.D549H|FSTL5_ENST00000379164.4_Missense_Mutation_p.D549H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	550						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTGATTTGTCATAGTGTAAT	0.373000													15	66					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892002	5892002	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:5892002G>A	ENST00000581347.2	-	3	706	c.61C>T	c.(61-63)Cca>Tca	p.P21S	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P21S			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						ATCTGGCTTGGGGGGCGGAGT	0.607000													10	77					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922768	96922768	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr14:96922768C>T	ENST00000267584.4	+	11	1227	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	395	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAAACTGCATCACATCCAACT	0.393000													29	38					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123062324	123062324	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:123062324G>C	ENST00000333479.7	+	31	3004	c.2827G>C	c.(2827-2829)Gat>Cat	p.D943H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	943					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAAGAGCCAGATCATTCTAA	0.368000													14	50					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671633	92671633	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:92671633G>A	ENST00000318445.6	+	7	1640	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.E476K	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	476	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TAATAACTGTGAATGCCAAAC	0.537000													22	127					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50861948	50861948	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:50861948C>T	ENST00000359139.3	+	10	1424	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	PPP6R2_ENST00000216061.5_Silent_p.L344L|PPP6R2_ENST00000395744.3_Silent_p.L344L|PPP6R2_ENST00000395741.3_Silent_p.L345L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	344						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAATGCCCGTCTGCATGGCGC	0.592000													31	64					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53338236	53338236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:53338236C>A	ENST00000607628.1	-	6	704	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Nonsense_Mutation_p.E199*	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	199					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGCATTTCTTCTAGAGTCTCG	0.428000													9	74					0.000274275	0.000284664	1	1	0
FPR2	2358	broad.mit.edu	37	19	52272667	52272667	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:52272667C>T	ENST00000598776.1	+	2	1528	c.756C>T	c.(754-756)atC>atT	p.I252I	FPR2_ENST00000340023.6_Silent_p.I252I|FPR2_ENST00000598953.1_Silent_p.I252I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	252					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTTCTTCATCTGTTGGTTTC	0.483000													7	41					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801295	80801295	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:80801295A>G	ENST00000466387.1	+	17	2473	c.1749A>G	c.(1747-1749)ccA>ccG	p.P583P	CTNNA2_ENST00000402739.4_Silent_p.P583P|CTNNA2_ENST00000343114.3_Silent_p.P262P|CTNNA2_ENST00000361291.4_Silent_p.P617P|CTNNA2_ENST00000540488.1_Silent_p.P583P|CTNNA2_ENST00000496558.1_Silent_p.P583P|CTNNA2_ENST00000541047.1_Silent_p.P583P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	583					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGTGATGCCACGCTTCGCTG	0.498000													18	80					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34098449	34098449	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:34098449C>T	ENST00000361264.4	-	5	1009	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	223						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CACATTGTGTCTCGCATCACT	0.502000													13	75					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857359	50857359	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:50857359C>A	ENST00000359139.3	+	7	1076	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	PPP6R2_ENST00000216061.5_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q228K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	228						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCAGGGCAGTCAGCTGCAAGA	0.587000													53	90					1.81118e-26	2.03387e-26	1	1	0
RPTN	126638	broad.mit.edu	37	1	152129395	152129395	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152129395G>C	ENST00000316073.3	-	3	244	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	60	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTGATCTAAGAGGTTCAAGA	0.413000													29	195					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5760784	5760784	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:5760784C>A	ENST00000425013.2	-	9	1577	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	RNF216_ENST00000389902.3_Missense_Mutation_p.K508N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	451					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGAACATCCTCTTTTCTATTT	0.453000													9	79					0.000274275	0.000284664	1	1	0
S100A1	6271	broad.mit.edu	37	1	153604179	153604179	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153604179G>A	ENST00000368698.3	+	4	453	c.306G>A	c.(304-306)caG>caA	p.Q102Q	S100A1_ENST00000469893.1_3'UTR|S100A1_ENST00000368696.3_3'UTR|S100A13_ENST00000368699.1_Intron|RP1-178F15.4_ENST00000469931.2_RNA|S100A1_ENST00000292169.1_Silent_p.Q49Q|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA			P23297	S10A1_HUMAN	S100 calcium binding protein A1	49					intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CACAGGCCCAGAAGGATGTGG	0.567000													181	443					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480090	52480090	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:52480090G>T	ENST00000219746.9	-	5	1006	c.722C>A	c.(721-723)cCc>cAc	p.P241H	TOX3_ENST00000407228.3_Missense_Mutation_p.P236H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	241					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGTCTTGGGCTTCTTGCC	0.448000													6	41					2.0095e-06	2.13412e-06	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777120	18777120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:18777120C>T	ENST00000380548.4	+	19	3232	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	965						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGAGGCAACCGCAAGCTCGT	0.647000													9	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582797	55582797	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:55582797C>T	ENST00000361849.3	-	34	5089	c.4695G>A	c.(4693-4695)ctG>ctA	p.L1565L	PCDH15_ENST00000395430.1_Silent_p.L1560L|PCDH15_ENST00000395432.2_Silent_p.L1523L|PCDH15_ENST00000437009.1_Silent_p.L1494L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Silent_p.L1563L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Silent_p.L1540L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1563					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGGCCCCTCAGAGACTTAC	0.423000										HNSCC(58;0.16)			38	91					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128785	152128785	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152128785G>C	ENST00000316073.3	-	3	854	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	264	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GATTTCTGTTGATTTGTCTGG	0.443000													77	634					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122710529	122710529	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:122710529G>A	ENST00000443649.3	-	2	850	c.33C>T	c.(31-33)agC>agT	p.S11S	DIABLO_ENST00000267169.6_5'UTR|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000413918.1_Silent_p.S11S|DIABLO_ENST00000353548.6_Silent_p.S11S|RP11-512M8.5_ENST00000535844.1_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	11					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ATGAAGTTACGCTGCGCGACA	0.697000													4	13					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368567	45368567	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:45368567G>A	ENST00000252483.5	+	2	128	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	PVRL2_ENST00000252485.4_Missense_Mutation_p.R43Q	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	43	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCGAGGTGCGAGGCCAGCTC	0.652000													17	95					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127512247	127512247	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:127512247G>A	ENST00000299130.3	+	1	133	c.121G>A	c.(121-123)Gac>Aac	p.D41N	BCCIP_ENST00000278100.6_Missense_Mutation_p.D41N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D41N|BCCIP_ENST00000368759.5_Missense_Mutation_p.D41N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	41					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				agacgatgatgacagtgacaa	0.522000													29	53					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29917130	29917130	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:29917130G>A	ENST00000308748.5	+	3	1337	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ASPHD1_ENST00000483405.1_Missense_Mutation_p.R81Q	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	362					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GATGGGCCTCGAGTGGTCTTC	0.592000													7	61					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128407	152128407	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152128407G>A	ENST00000316073.3	-	3	1232	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	390	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAGTGAGAACTCTGA	0.498000													212	1546					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													4	46					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211889	71211889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:71211889G>A	ENST00000457410.1	+	6	1089	c.950G>A	c.(949-951)aGg>aAg	p.R317K	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R351K			Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	351										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGTTCCAGGAGCTTCCAC	0.632000											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187088876	187088876	+	Silent	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:187088876C>A	ENST00000259030.2	+	2	566	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	152					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ATGACACAGCCAATTGTGAGG	0.483000													22	45					2.70639e-06	2.86313e-06	1	1	0
EMD	2010	broad.mit.edu	37	X	153608140	153608140	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:153608140C>G	ENST00000369842.4	+	2	461	c.173C>G	c.(172-174)tCt>tGt	p.S58C	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	58	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCCTCCTCTTATAGCTTC	0.667000													21	48					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175722261	175722261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:175722261C>T	ENST00000443967.1	+	5	2010	c.1603C>T	c.(1603-1605)Caa>Taa	p.Q535*	SIMC1_ENST00000429602.2_Nonsense_Mutation_p.Q554*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.Q120*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.Q120*					SUMO-interacting motifs containing 1																		CATGAAAATTCAACAGTATGA	0.453000													7	16					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259934	16259934	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:16259934C>A	ENST00000375759.3	+	11	7403	c.7199C>A	c.(7198-7200)tCt>tAt	p.S2400Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2400	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATGTACTTCTGACCTAAGC	0.522000													20	49					4.96729e-08	5.37959e-08	1	1	0
MGAM	8972	broad.mit.edu	37	7	141773904	141773904	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:141773904C>G	ENST00000475668.2	+	45	5260	c.5206C>G	c.(5206-5208)Ctt>Gtt	p.L1736V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1736	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTCTTGGTCTTATTATTGC	0.408000													10	21					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130297521	130297521	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:130297521C>T	ENST00000257359.6	-	1	1367	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	221	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGCGTCTCCACGAAGCGCGCC	0.687000													3	5					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200028	128200028	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:128200028G>A	ENST00000341105.2	-	6	1608	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.S412F|GATA2_ENST00000487848.1_Missense_Mutation_p.S426F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	426					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACTGAAGGGGGATGACTTCTC	0.602000			Mis		AML(CML blast transformation)								17	91					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945577	16945577	+	RNA	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:16945577C>G	ENST00000412962.1	-	0	1942																											GCCATCTTCTCAGACTCCTTC	0.612000													56	513					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5284737	5284737	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:5284737G>C	ENST00000262477.6	+	17	2648	c.2424G>C	c.(2422-2424)caG>caC	p.Q808H	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q775H|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q775H|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q808H|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q765H	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	808					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAGATTACAGACAGAATTAG	0.408000													12	62					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343093	118343093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:118343093C>T	ENST00000534358.1	+	3	1242	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R407*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R407*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAAAAATATTCGACAGTTCAT	0.443000													37	103					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592460	81592460	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:81592460G>A	ENST00000394660.2	+	14	3153	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	IL16_ENST00000302987.4_Silent_p.Q931Q|IL16_ENST00000394652.2_Silent_p.Q230Q	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	931					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCCCAATCAGAAAACTCTCC	0.642000													4	67					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128362	152128362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152128362G>A	ENST00000316073.3	-	3	1277	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	405	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCTCTGTCTGACCATAGTGA	0.512000													210	1651					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798273	241798273	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:241798273G>A	ENST00000366553.1	-	1	959	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	266					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGAAATGCAAGAATCCTAGTG	0.358000													15	57					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45986918	45986918	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:45986918C>T	ENST00000257821.4	-	9	1567	c.944G>A	c.(943-945)aGa>aAa	p.R315K	PHF21A_ENST00000418153.2_Missense_Mutation_p.R314K|PHF21A_ENST00000323180.6_Missense_Mutation_p.R315K|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	314					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCCAGCGAGTCTGGTCCCTGG	0.537000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	35					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134997394	134997394	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:134997394G>A	ENST00000304613.3	+	5	547	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E176K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E111K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	176	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCGCTGTGTGAAGAGAAGCT	0.657000													19	112					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231954236	231954236	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:231954236G>A	ENST00000439617.2	+	9	2007	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000602281.1_Missense_Mutation_p.E652K|DISC1_ENST00000535983.1_Missense_Mutation_p.E652K|DISC1_ENST00000366633.3_Missense_Mutation_p.E652K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.E652K|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000539444.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	652	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACTGAGAAGAGAAGTGGAGCA	0.468000													23	95					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228242	28228242	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:28228242G>A	ENST00000343684.3	+	1	1145	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	365										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGTGCTGATGAGAAGAGAGC	0.448000													31	120					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598831	153598831	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153598831C>G	ENST00000368699.1	-	4	621	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	S100A13_ENST00000339556.4_Missense_Mutation_p.E40Q|S100A13_ENST00000392623.1_Missense_Mutation_p.E40Q|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000392622.1_Missense_Mutation_p.E40Q|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000440685.2_Missense_Mutation_p.E40Q	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	40	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GTAACCAGCTCTTTGAACTCG	0.522000													76	399					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113345005	113345005	+	Silent	SNP	C	C	T	rs150661858		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488000													51	186					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172276	90172276	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:90172276G>A	ENST00000394412.3	-	18	3671	c.3595C>T	c.(3595-3597)Cgt>Tgt	p.R1199C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1199					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CACATGTAACGGCCCAGTTCC	0.562000													37	67					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134152289	134152289	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:134152289C>G	ENST00000452510.2	+	19	2764	c.2606C>G	c.(2605-2607)tCt>tGt	p.S869C	DDX46_ENST00000354283.4_Missense_Mutation_p.S869C	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	869					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCATCGAGTCTCAGGTATTA	0.358000													8	31					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12371683	12371683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:12371683C>T	ENST00000269143.3	-	2	353	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	41					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TGTAACAAATCGGTAAAGCTG	0.348000													14	56					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406314	38406314	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:38406314G>A	ENST00000322350.5	+	7	1145	c.799G>A	c.(799-801)Gac>Aac	p.D267N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D33N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D267N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	267						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTTGAAGACGACTTAGATTT	0.453000													10	89					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505329	186505329	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:186505329T>G	ENST00000323963.5	+	9	1019	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	EIF4A2_ENST00000356531.5_Missense_Mutation_p.F224V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.F320V			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	319	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CATGAGGGAATTCCGGTCAGG	0.398000			T	BCL6	NHL								47	135					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653074	153653074	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153653074G>C	ENST00000368680.3	+	2	1291	c.819G>C	c.(817-819)ctG>ctC	p.L273L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	273					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCTTCCACCTGGATATCTTTG	0.602000													13	78					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047547	55047547	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:55047547G>A	ENST00000330807.5	-	5	713	c.576C>T	c.(574-576)tcC>tcT	p.S192S	ALAS2_ENST00000396198.3_Silent_p.S179S|ALAS2_ENST00000335854.4_Silent_p.S155S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	192					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TACACCAGACGGACACATCCT	0.527000													26	22					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44585253	44585253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:44585253G>A	ENST00000421176.3	+	3	317	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AAGCTGTATCGAGATGTCATG	0.532000													27	174					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851371	43851371	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:43851371G>A	ENST00000372769.3	+	2	1188	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	366	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGGGCATCCAGAAAGGTGTAT	0.388000													39	140					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72307085	72307085	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:72307085G>A	ENST00000263563.6	+	18	2413	c.2145G>A	c.(2143-2145)ctG>ctA	p.L715L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGGTGCAGCTGCTACCCGATG	0.592000													35	221					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548392	14548392	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:14548392C>A	ENST00000273083.3	-	0	2379							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657000													7	15					0.000274275	0.000284664	1	1	0
TREML1	340205	broad.mit.edu	37	6	41121499	41121499	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:41121499G>T	ENST00000373127.4	-	2	421	c.373C>A	c.(373-375)Cca>Aca	p.P125T	TREML1_ENST00000426005.2_Missense_Mutation_p.P125T|TREML1_ENST00000437044.2_Intron	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	125					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AACTCACCTGGGGGCAGTATG	0.612000													18	161					1.99824e-07	2.14712e-07	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	141					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855382	42855382	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:42855382C>T	ENST00000200557.6	+	24	2302	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	ADAM11_ENST00000535346.1_Silent_p.I511I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	711					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACTGCAGTATCCATAACCCCC	0.612000													92	181					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217666	87217666	+	Splice_Site	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:87217666C>T	ENST00000441037.2	+	22	3177	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*	AGBL1_ENST00000389298.3_Splice_Site_p.R759*|AGBL1_ENST00000421325.2_Splice_Site_p.R1028*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1028					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCACCTCCAACGGTAAGATGC	0.532000													14	15					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79985563	79985563	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:79985563C>T	ENST00000306688.3	+	8	1189	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	283						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTCGGCAGCCCGTGTAGGGCA	0.607000													5	24					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3414972	3414972	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:3414972G>C	ENST00000356575.4	-	26	3541	c.3315C>G	c.(3313-3315)ctC>ctG	p.L1105L	MEGF6_ENST00000294599.4_Silent_p.L914L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1105	EGF-like 20.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGGCTGGGCAGAGGCAGCGGC	0.711000													9	7					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908332	103908332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:103908332C>T	ENST00000302259.3	+	1	1025	c.782C>T	c.(781-783)tCg>tTg	p.S261L	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	261					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTTGTTGACTCGGGCGCCCAG	0.527000													40	123					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188196	142188196	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:142188196T>C	ENST00000350721.4	-	38	6656	c.6535A>G	c.(6535-6537)Atg>Gtg	p.M2179V	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.M2115V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2179	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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						ACAGCTGTCATCATCCACATT	0.318000								Other conserved DNA damage response genes					22	82					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94574256	94574256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:94574256G>A	ENST00000370225.3	-	4	405	c.319C>T	c.(319-321)Cga>Tga	p.R107*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R107*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	107					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAAAATCTCGATATACCCTT	0.388000													25	54					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112757	81112757	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:81112757C>T	ENST00000228644.3	+	3	847	c.695C>T	c.(694-696)cCa>cTa	p.P232L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	232					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCTCTCTCTCCAGTTGCCAGC	0.488000													24	75					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91341440	91341440	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:91341440G>A	ENST00000355112.3	+	17	3349	c.3231G>A	c.(3229-3231)gtG>gtA	p.V1077V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V1077V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1077					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAAGAGATGTGACTGACGATG	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				10	50					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428448	72428448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:72428448C>G	ENST00000477973.2	-	2	553	c.554G>C	c.(553-555)gGa>gCa	p.G185A		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein		Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GGACTAATTTCCTTGTCTTTC	0.388000													15	145					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145594092	145594092	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:145594092C>T	ENST00000334163.3	-	14	1630	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	490					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GAGCTGTGATCATCTCCTCTA	0.443000													37	170					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193795	28193795	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:28193795C>T	ENST00000302326.4	-	1	3691	c.2737G>A	c.(2737-2739)Ggg>Agg	p.G913R		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	913							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						GTGCCGTCCCCCTGGGCTGGA	0.741000			T	ETV6	"""AML, meningioma"""								7	24					0	0	1	0	0
FAM63A	55793	broad.mit.edu	37	1	150970638	150970638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:150970638G>A	ENST00000361936.5	-	9	2047	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	FAM63A_ENST00000361738.6_Missense_Mutation_p.H413Y|FAM63A_ENST00000312210.5_Missense_Mutation_p.H223Y|FAM63A_ENST00000493834.2_Missense_Mutation_p.H270Y	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	365							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGACTCAGGTGAAAGTCAGAG	0.562000													106	227					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63195969	63195969	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:63195969C>A	ENST00000399298.3	-	2	597	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	TMEM26_ENST00000399293.1_Missense_Mutation_p.V77F	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	77						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AATGATGGAACGATGCTAATC	0.323000													19	23					1.00905e-13	1.11935e-13	1	1	0
TRIP13	9319	broad.mit.edu	37	5	893166	893166	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:893166C>T	ENST00000166345.3	+	1	409	c.53C>T	c.(52-54)tCg>tTg	p.S18L		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	18					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GTGGCCGAGTCGCCAACGGTC	0.731000													4	24					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	27					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48213403	48213403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:48213403G>A	ENST00000316878.6	-	10	2229	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	743	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TACTGCGCCTGAGTCTCCCGC	0.642000													8	22					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91346861	91346861	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:91346861G>A	ENST00000355112.3	+	18	3587	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1157					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATTTTGGATGAAGACTTATA	0.358000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				41	51					0	0	1	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549209	44549209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:44549209C>A	ENST00000451265.1	-	1	1325	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						AGAACGGGTTCAAGAACCGAG	0.612000													32	771					6.00712e-18	6.69086e-18	1	1	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	46					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151130	145151130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:145151130G>T	ENST00000318911.4	+	3	503	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	144	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGGAGGATGAAGCTAAGGA	0.627000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	328					3.2641e-12	3.59182e-12	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93839183	93839183	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:93839183C>T	ENST00000315765.9	+	17	2940	c.2932C>T	c.(2932-2934)Ctc>Ttc	p.L978F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	978	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTTGGGAATCTCCATGGCCT	0.338000													12	35					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:153588591G>A	ENST00000422373.1	-	22	3820	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	68					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945508	16945508	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:16945508C>A	ENST00000412962.1	-	0	2011																											TTCTGCCGCTCCATCTCCAGG	0.637000													24	360					1.9806e-07	2.13655e-07	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150325454	150325454	+	Nonstop_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:150325454G>C	ENST00000324862.6	+	16	2216	c.2051G>C	c.(2050-2052)tGa>tCa	p.*684S	PRPF3_ENST00000414970.2_Nonstop_Mutation_p.*635S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	0					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCCACTGATTGAGACTACTGC	0.493000													35	121					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458116	20458116	+	Silent	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:20458116C>G	ENST00000426804.1	-	1	3670	c.3186G>C	c.(3184-3186)cgG>cgC	p.R1062R		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCAGCAAGTCCCGTGGCAGCC	0.662000													10	35					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20691172	20691172	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:20691172G>A	ENST00000404938.2	+	13	2114	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	ABCB5_ENST00000406935.1_Missense_Mutation_p.D43N|ABCB5_ENST00000258738.6_Missense_Mutation_p.D43N|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_Missense_Mutation_p.D43N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	43	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGACGAGATGATGTGACTGA	0.438000													27	161					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587548	110587548	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:110587548C>T	ENST00000399066.3	-	6	2297	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	SYBU_ENST00000419099.1_Missense_Mutation_p.D526N|SYBU_ENST00000533171.1_Missense_Mutation_p.D527N|SYBU_ENST00000408889.3_Missense_Mutation_p.D408N|SYBU_ENST00000276646.9_Missense_Mutation_p.D527N|SYBU_ENST00000408908.2_Missense_Mutation_p.D527N|SYBU_ENST00000422135.1_Missense_Mutation_p.D527N|SYBU_ENST00000528331.1_Missense_Mutation_p.D408N|SYBU_ENST00000533065.1_Missense_Mutation_p.D408N|SYBU_ENST00000446070.2_Missense_Mutation_p.D526N|SYBU_ENST00000529175.1_Missense_Mutation_p.D321N|SYBU_ENST00000433638.1_Missense_Mutation_p.D527N|SYBU_ENST00000529690.1_Missense_Mutation_p.D397N|SYBU_ENST00000532779.1_Missense_Mutation_p.D459N|SYBU_ENST00000424158.2_Missense_Mutation_p.D532N|SYBU_ENST00000440310.1_Missense_Mutation_p.D527N|SYBU_ENST00000533895.1_Missense_Mutation_p.D526N|SYBU_ENST00000528647.1_Missense_Mutation_p.D526N	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	527						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCCATCGAGTCTGGTTCAGAC	0.557000													23	69					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853645	101853645	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:101853645G>C	ENST00000348070.1	-	21	2631	c.2632C>G	c.(2632-2634)Cca>Gca	p.P878A	PCSK6_ENST00000358417.3_Missense_Mutation_p.P865A|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	879	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACAGGCTGGCACACACTTC	0.572000													8	99					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35695204	35695204	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:35695204C>G	ENST00000373664.3	-	6	835	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RBL1_ENST00000344359.3_Missense_Mutation_p.D257H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	257					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGTCCATCATGCAGTTCA	0.393000													25	74					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2955833	2955833	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:2955833C>T	ENST00000380520.1	-	2	2231	c.237G>A	c.(235-237)gtG>gtA	p.V79V	SERPINB6_ENST00000380524.1_Silent_p.V79V|SERPINB6_ENST00000335686.5_Silent_p.V79V|SERPINB6_ENST00000380529.1_Silent_p.V79V|SERPINB6_ENST00000380539.1_Silent_p.V79V|SERPINB6_ENST00000380546.3_Silent_p.V79V			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	79					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGTCTTGTTCACTTCGGTGA	0.433000													35	87					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387865	46387865	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:46387865C>T	ENST00000302165.3	-	1	1511	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCAGCCGCCTCGCCCTCCGGC	0.751000													4	42					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483277	102483277	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:102483277T>C	ENST00000369138.1	+	14	2637	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	GRIK2_ENST00000369137.3_Missense_Mutation_p.V640A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V716A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V667A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V716A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V716A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	716					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCAGTCAGTGCTGGTCAAA	0.408000													40	145					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268509	21268509	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:21268509C>T	ENST00000602326.1	-	12	1571	c.988G>A	c.(988-990)Gac>Aac	p.D330N	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D324N|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D335N|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D330N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D324N|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D324N|EIF4G3_ENST00000374935.3_Intron	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	324					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.D324Y(1)|p.D330Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTAAAGGGTCTGATGTTTCT	0.388000													73	186					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236766649	236766649	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:236766649C>G	ENST00000366582.3	-	3	284	c.170G>C	c.(169-171)gGa>gCa	p.G57A	HEATR1_ENST00000366581.2_Missense_Mutation_p.G57A|HEATR1_ENST00000366579.1_Missense_Mutation_p.G57A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	57					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGATCAATTCCAAGCAACTC	0.408000													13	50					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675142	81675142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:81675142G>A	ENST00000550584.2	-	26	3401	c.3106C>T	c.(3106-3108)Cag>Tag	p.Q1036*	PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q935*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q883*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1030*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1036*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q931*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1015*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q222*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q572*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	935										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTCTGTACTGAGGTAACCCC	0.388000													14	73					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319265	37319265	+	Missense_Mutation	SNP	G	G	A	rs142974275	byFrequency	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:37319265G>A	ENST00000373091.3	-	8	1179	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	388					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATCAAAATCCGTCCGCAAGCC	0.547000													20	60					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959431	45959431	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:45959431G>T	ENST00000400375.1	-	1	647	c.603C>A	c.(601-603)ccC>ccA	p.P201P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	201	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGAGCAGACGGGCACACAGC	0.662000													104	227					2.32228e-54	2.61854e-54	1	1	0
C20orf141	128653	broad.mit.edu	37	20	2796220	2796220	+	Silent	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:2796220C>A	ENST00000380589.4	+	2	471	c.297C>A	c.(295-297)ctC>ctA	p.L99L	TMEM239_ENST00000380593.4_Intron|C20orf141_ENST00000603872.1_Silent_p.L99L|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	99	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCAAACTTCTCACCAGGGGCC	0.612000													5	59					1.23904e-05	1.30576e-05	1	1	0
CUL2	8453	broad.mit.edu	37	10	35317755	35317755	+	Missense_Mutation	SNP	C	C	T	rs76203075		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:35317755C>T	ENST00000374748.1	-	17	1913	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	CUL2_ENST00000374751.3_Missense_Mutation_p.E534K|CUL2_ENST00000374749.3_Missense_Mutation_p.E534K|CUL2_ENST00000537177.1_Missense_Mutation_p.E553K|CUL2_ENST00000602371.1_Missense_Mutation_p.E477K|CUL2_ENST00000374746.1_Missense_Mutation_p.E534K|CUL2_ENST00000374742.1_Missense_Mutation_p.E534K			Q13617	CUL2_HUMAN	cullin 2	534					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACACTTTTTTCTAATTCCTGG	0.323000													3	30					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117617594	117617594	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:117617594G>A	ENST00000369466.4	+	5	432	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAGGTACTTGACAAGAATCA	0.408000													20	67					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26168458	26168458	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr22:26168458C>T	ENST00000335473.7	+	7	2100	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L|MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	617	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGGGCCCTCGGTGCCTTCT	0.642000													24	34					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035857	145035857	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:145035857C>T	ENST00000360771.4	-	6	536	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	141					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTTTCTATTTCAACAGAACTT	0.353000													8	31					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145594124	145594124	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:145594124C>G	ENST00000334163.3	-	14	1598	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	480					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGTGCTTCCTCTGCACCAGTA	0.443000													30	148					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27327301	27327301	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:27327301A>G	ENST00000404694.3	-	1	304	c.300T>C	c.(298-300)tgT>tgC	p.C100C	CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000312734.4_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCGTGTCACAGATGGGCT	0.542000													4	16					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:38406338G>C	ENST00000322350.5	+	7	1169	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000													4	70					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163692	154163692	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:154163692C>T	ENST00000368530.2	-	2	405	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TPM3_ENST00000271850.7_Silent_p.K71K	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	70					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCAGTTCCAGCTTCTCCTGGG	0.448000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								76	104					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839273	93839273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:93839273C>G	ENST00000315765.9	+	17	3030	c.3022C>G	c.(3022-3024)Cat>Gat	p.H1008D		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1008	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATCCATTATCATGCTGAGAG	0.358000													19	56					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859826	43859826	+	RNA	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:43859826G>A	ENST00000378009.4	+	0	435				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAGGATCCTTGAGGTGCCCAG	0.557000													36	76					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127533	152127533	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152127533G>A	ENST00000316073.3	-	3	2106	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	681	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTACTGCATGATTGCCAGTC	0.532000													44	335					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27755387	27755387	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:27755387G>A	ENST00000430629.2	-	2	229	c.14C>T	c.(13-15)aCg>aTg	p.T5M	WASF2_ENST00000536657.1_Missense_Mutation_p.T5M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	5					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	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)		GATGTTCCTCGTTACTAACGG	0.473000													15	62					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652193	153652193	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153652193G>T	ENST00000368680.3	+	1	1081	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	203					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGAGGGGCTGTTCATGCGGG	0.667000													4	24					0.00909568	0.00936923	1	1	0
CADPS	8618	broad.mit.edu	37	3	62860633	62860633	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:62860633G>A	ENST00000383710.4	-	1	421	c.72C>T	c.(70-72)ctC>ctT	p.L24L	CADPS_ENST00000357948.3_Silent_p.L24L|CADPS_ENST00000283269.9_Silent_p.L24L|CADPS_ENST00000490353.2_Silent_p.L24L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	24					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGCCGAGCCGAGCACCTCCT	0.741000													6	12					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841921	208841921	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr2:208841921T>C	ENST00000457206.1	-	3	1427	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.T334A|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T334A			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	334					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATTCTGTGTATAGTCATCA	0.517000													13	105					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:44664045C>G	ENST00000222673.5	+	2	145	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	OGDH_ENST00000444676.1_Missense_Mutation_p.Q35E|OGDH_ENST00000449767.1_Missense_Mutation_p.Q35E|OGDH_ENST00000443864.2_Missense_Mutation_p.Q35E|OGDH_ENST00000439616.2_Missense_Mutation_p.Q35E|OGDH_ENST00000447398.1_Missense_Mutation_p.Q35E	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468000													87	161					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653103	153653103	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:153653103G>T	ENST00000368680.3	+	2	1320	c.848G>T	c.(847-849)gGa>gTa	p.G283V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	283					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCAAGGTGGACAGGGCCCT	0.612000													6	81					0.248553	0.248553	1	1	0
MIR1323	100302255	broad.mit.edu	37	19	54175252	54175252	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:54175252C>A	ENST00000408090.1	+	0	31					NR_031568.1																						GGGGCATTTTCTGTGGTTTGA	0.483000													5	81					0.014758	0.0150884	1	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13765904	13765904	+	Nonsense_Mutation	SNP	G	G	T	rs147117631		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:13765904G>T	ENST00000378106.5	+	1	309	c.190G>T	c.(190-192)Gag>Tag	p.E64*	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64*	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	64					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CCGGCAGCCCGAGCCGACCAA	0.632000													5	32					0.184627	0.185304	1	1	0
FLNA	2316	broad.mit.edu	37	X	153588592	153588592	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chrX:153588592C>G	ENST00000422373.1	-	22	3819	c.3571G>C	c.(3571-3573)Gcg>Ccg	p.A1191P	FLNA_ENST00000344736.4_Missense_Mutation_p.A1191P|FLNA_ENST00000360319.4_Missense_Mutation_p.A1191P|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCAGCTCCGCGCTGCCCGCG	0.642000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	66					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568298	7568298	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:7568298C>T	ENST00000340209.4	+	2	489	c.192C>T	c.(190-192)ccC>ccT	p.P64P	RBFOX1_ENST00000553186.1_Silent_p.P59P|RBFOX1_ENST00000311745.5_Silent_p.P79P|RBFOX1_ENST00000355637.4_Silent_p.P79P|RBFOX1_ENST00000547372.1_Silent_p.P102P|RBFOX1_ENST00000547338.1_Silent_p.P59P|RBFOX1_ENST00000422070.4_Silent_p.P102P|RBFOX1_ENST00000552089.1_Silent_p.P95P|RBFOX1_ENST00000550418.1_Silent_p.P59P|RBFOX1_ENST00000535565.2_Silent_p.P95P|RBFOX1_ENST00000436368.2_Silent_p.P79P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCACGGTTCCCGAGCACACAT	0.657000													57	171					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253275	174253275	+	Missense_Mutation	SNP	C	C	T	rs17849374		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:174253275C>T	ENST00000296503.5	-	5	1459	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	HMGB2_ENST00000438704.2_Missense_Mutation_p.E196K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E196K			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		tcatcttcttcttcctcctcc	0.468000													16	66					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200119	128200119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr3:128200119G>A	ENST00000341105.2	-	6	1517	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Missense_Mutation_p.R382W|GATA2_ENST00000487848.1_Missense_Mutation_p.R396W	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	396					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TTCCGGTTCCGAGTCTGGATC	0.537000			Mis		AML(CML blast transformation)								21	107					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71067186	71067186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr4:71067186C>T	ENST00000396094.2	+	7	592	c.544C>T	c.(544-546)Caa>Taa	p.Q182*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	182	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATTCTATGCTCAATTTGGATA	0.259000													6	16					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234288	155234288	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:155234288C>G	ENST00000368361.4	-	10	1432	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E372Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E371Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E373Q			P49760	CLK2_HUMAN	CDC-like kinase 2	373	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATAGTATTCAAAGATGATG	0.493000								Other conserved DNA damage response genes					12	58					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599891	29599891	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr13:29599891A>G	ENST00000431530.3	+	1	1144	c.1086A>G	c.(1084-1086)gcA>gcG	p.A362A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	352						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGGGAAGCACACCCGGAAG	0.567000													6	77					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17127619	17127619	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:17127619T>C	ENST00000377833.4	-	16	2152	c.2087A>G	c.(2086-2088)cAt>cGt	p.H696R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	696	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTAGGTGATATGGAAGCCTTG	0.443000													16	144					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:35423591C>T	ENST00000229769.2	+	2	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GATGGCCGTTCGGCCATCGCT	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	108					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:125398267A>C	ENST00000536769.1	-	1	1627	c.51T>G	c.(49-51)gtT>gtG	p.V17V	UBC_ENST00000339647.5_Silent_p.V17V|UBC_ENST00000538617.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	17	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473000													5	208					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418703	20418703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:20418703C>T	ENST00000222573.4	+	4	1102	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.H5Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCTGAAAGTTCATCCTCTGAA	0.303000													13	68					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140627	3140627	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:3140627C>T	ENST00000252463.2	-	5	730	c.643G>A	c.(643-645)Gac>Aac	p.D215N	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.D133N|ZSCAN10_ENST00000572548.1_3'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	215					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TCCTCCTTGTCTGGGGTTCTG	0.557000													10	47					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129107265	129107265	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr7:129107265C>G	ENST00000249344.2	+	17	1891	c.1851C>G	c.(1849-1851)atC>atG	p.I617M	STRIP2_ENST00000435494.2_Missense_Mutation_p.I617M	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ATCAAAATATCTTGTCATACA	0.383000													9	31					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566481	56566481	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr12:56566481G>A	ENST00000394023.3	-	19	1856	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	SMARCC2_ENST00000347471.4_Missense_Mutation_p.S584F|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S584F|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S553F|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	553					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGGGAAGCAGAGGTCTGCTA	0.463000													36	106					0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30393431	30393431	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr16:30393431T>C	ENST00000321367.3	-	4	350	c.305A>G	c.(304-306)cAg>cGg	p.Q102R	SEPT1_ENST00000571393.1_Missense_Mutation_p.Q55R|SEPT1_ENST00000605106.1_Missense_Mutation_p.Q60R	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	55					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTCTGGCACCTGGCGATCCTC	0.587000													6	10					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4162527	4162527	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr20:4162527C>T	ENST00000305958.4	+	4	738	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SMOX_ENST00000278795.3_Silent_p.F171F|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Silent_p.F171F|SMOX_ENST00000339123.6_Silent_p.F171F|SMOX_ENST00000484515.1_3'UTR	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	171					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGGGGGTGTTCACCCGAGAGG	0.542000													22	116					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290715	74290715	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr15:74290715C>G	ENST00000565898.1	+	2	584	c.500C>G	c.(499-501)gCa>gGa	p.A167G	PML_ENST00000564428.1_Missense_Mutation_p.A167G|PML_ENST00000359928.4_Missense_Mutation_p.A167G|PML_ENST00000354026.6_Missense_Mutation_p.A167G|PML_ENST00000395132.2_Missense_Mutation_p.A167G|PML_ENST00000395135.3_Missense_Mutation_p.A167G|PML_ENST00000268059.6_Missense_Mutation_p.A167G|PML_ENST00000563500.1_Missense_Mutation_p.A167G|PML_ENST00000436891.3_Missense_Mutation_p.A167G|PML_ENST00000567543.1_Missense_Mutation_p.A167G|PML_ENST00000268058.3_Missense_Mutation_p.A167G|PML_ENST00000435786.2_Missense_Mutation_p.A167G|PML_ENST00000569965.1_Missense_Mutation_p.A167G|PML_ENST00000569477.1_Missense_Mutation_p.A167G			P29590	PML_HUMAN	promyelocytic leukemia	167					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGGCCCCTAGCAGAGCTGCGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								8	55					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375759	46375759	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:46375759C>T	ENST00000302177.2	+	2	693	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	166					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GAACTCCATTCGCCACTCGCT	0.587000													36	121					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747380	62747380	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr11:62747380G>A	ENST00000377871.3	-	7	1344	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.L360L|SLC22A6_ENST00000458333.2_Silent_p.L360L|SLC22A6_ENST00000360421.4_Silent_p.L360L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	360					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAGCCCTGCAGGTCCATGACC	0.517000													17	65					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678687	39678687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr8:39678687C>G	ENST00000265708.4	-	6	450	c.347G>C	c.(346-348)gGc>gCc	p.G116A	ADAM2_ENST00000347580.4_Missense_Mutation_p.G116A|ADAM2_ENST00000521880.1_Missense_Mutation_p.G116A|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.G116A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	116					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTAGTACGCCCCTAAAAAT	0.313000													5	2					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593069	7593069	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:7593069G>A	ENST00000264079.6	+	7	928	c.803G>A	c.(802-804)aGt>aAt	p.S268N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	268					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAAGCACACAGTGGGCGGATC	0.617000													37	123					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152130234	152130234	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:152130234G>T	ENST00000316073.3	-	2	196	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	44	EF-hand 1.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTACCTGGAGGATGTCTCCAA	0.463000													13	71					6.72482e-11	7.37041e-11	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133920995	133920995	+	Silent	SNP	C	C	T	rs143375693	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:133920995C>T	ENST00000361069.4	+	8	1600	c.1467C>T	c.(1465-1467)tgC>tgT	p.C489C	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	489	Laminin EGF-like 5; first part.				cell adhesion	basement membrane|membrane	structural molecule activity	p.C489C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAAGGTGTGCGCGTCCACTG	0.597000													4	116					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88904043	88904043	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:88904043C>T	ENST00000268695.5	-	5	641	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GALNS_ENST00000542788.1_Missense_Mutation_p.E110K	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	185			E -> G (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CCAACCATCTCCCAGTCCCTG	0.607000													18	94					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35317755	35317755	+	Missense_Mutation	SNP	C	C	T	rs76203075		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:35317755C>T	ENST00000374748.1	-	17	1913	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	CUL2_ENST00000374746.1_Missense_Mutation_p.E534K|CUL2_ENST00000602371.1_Missense_Mutation_p.E477K|CUL2_ENST00000374742.1_Missense_Mutation_p.E534K|CUL2_ENST00000374749.3_Missense_Mutation_p.E534K|CUL2_ENST00000374751.3_Missense_Mutation_p.E534K|CUL2_ENST00000537177.1_Missense_Mutation_p.E553K			Q13617	CUL2_HUMAN	cullin 2	534					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACACTTTTTTCTAATTCCTGG	0.323000													3	30					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121740413	121740413	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:121740413C>T	ENST00000452319.1	+	11	1700	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.A547V|GLI2_ENST00000314490.11_Missense_Mutation_p.A219V			P10070	GLI2_HUMAN	GLI family zinc finger 2	547					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTCCAACGCCTCGGACCGC	0.632000													23	89					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895431	42895431	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:42895431T>G	ENST00000399770.2	+	1	148	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	50					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGCCAGTATCTGTGGGATAGA	0.507000													12	181					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553639	106553639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:106553639C>G	ENST00000369096.4	+	5	1838	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	PRDM1_ENST00000369089.3_Nonsense_Mutation_p.S401*|PRDM1_ENST00000369091.2_Nonsense_Mutation_p.S499*	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	535					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAGCTACCTCAGCAGCGATG	0.587000			"""D, N, Mis, F, S"""		DLBCL								22	77					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102020025	102020025	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:102020025T>C	ENST00000354105.4	-	4	325	c.239A>G	c.(238-240)tAt>tGt	p.Y80C		NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	80							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		ATCCTGGAAATATTTTACTGT	0.338000													16	90					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723098	21723098	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:21723098G>A	ENST00000399496.3	+	2	185	c.20G>A	c.(19-21)aGa>aAa	p.R7K	CABYR_ENST00000581397.1_Missense_Mutation_p.R7K|CABYR_ENST00000415309.2_Missense_Mutation_p.R7K|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.R7K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	7					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TCAAAGCCCAGACTTGTCGTA	0.383000													42	84					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598931	153598931	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153598931C>T	ENST00000368699.1	-	4	521	c.18G>A	c.(16-18)ctG>ctA	p.L6L	S100A13_ENST00000392622.1_Silent_p.L6L|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Silent_p.L6L|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000339556.4_Silent_p.L6L|S100A13_ENST00000392623.1_Silent_p.L6L	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	6					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTAGCTCTGTCAGTGGTTCTG	0.557000													38	225					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128771	51128771	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:51128771G>A	ENST00000338916.4	-	6	2086	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	SYT3_ENST00000600079.1_Missense_Mutation_p.R485W|SYT3_ENST00000544769.1_Missense_Mutation_p.R485W|SYT3_ENST00000593901.1_Missense_Mutation_p.R485W	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	485	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTTTTCCGCTTCTTCAGA	0.577000													8	22					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													4	87					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26789665	26789665	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr13:26789665C>T	ENST00000381588.4	-	5	1106	c.354G>A	c.(352-354)cgG>cgA	p.R118R	RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000346166.3_Silent_p.R118R|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Silent_p.R118R	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	118					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCCTGTGCGCCGAAAGGTGT	0.428000													23	62					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602650	107602650	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:107602650G>A	ENST00000374736.3	-	9	1358	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	322					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACCAGTTGAGAGACTTGATC	0.517000													12	72					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999886	45999886	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr21:45999886G>T	ENST00000400372.1	-	1	595	c.570C>A	c.(568-570)ccC>ccA	p.P190P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	190	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGAGCAGACGGGCACACAGC	0.632000													7	418					0.0293803	0.0298046	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145594178	145594178	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:145594178C>G	ENST00000334163.3	-	14	1544	c.1384G>C	c.(1384-1386)Gaa>Caa	p.E462Q	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	462					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGAGATTTTTCTAGTAGACGC	0.473000													18	86					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362858	55362858	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:55362858G>A	ENST00000290552.7	+	5	2300	c.968G>A	c.(967-969)gGa>gAa	p.G323E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GACCCTTCCGGATCGGAAGAA	0.642000													19	80					0	0	1	0	0
BMI1	648	broad.mit.edu	37	10	22616718	22616718	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:22616718G>A	ENST00000376663.3	+	5	818	c.313G>A	c.(313-315)Gat>Aat	p.D105N	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.D248N	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TCCTTCTGCTGATGGTAAACC	0.358000													20	63					0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52729490	52729490	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:52729490C>G	ENST00000407584.3	-	9	1609	c.759G>C	c.(757-759)tgG>tgC	p.W253C	GLT8D1_ENST00000394783.3_Missense_Mutation_p.W253C|GLT8D1_ENST00000266014.5_Missense_Mutation_p.W253C|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000478968.2_Missense_Mutation_p.W253C|GLT8D1_ENST00000491606.1_Missense_Mutation_p.W253C	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	253						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGTCGTTTCCATTCCGTCA	0.363000													28	90					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3788617	3788617	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:3788617C>A	ENST00000262367.5	-	26	5146	c.4337G>T	c.(4336-4338)cGc>cTc	p.R1446L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1446	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1446H(4)|p.R1446L(3)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AACGGCTGTGCGGAGGCAACG	0.408000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	20					4.68919e-08	5.12709e-08	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38406325	38406325	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:38406325G>A	ENST00000322350.5	+	7	1156	c.810G>A	c.(808-810)ttG>ttA	p.L270L	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.L36L|EGFLAM_ENST00000354891.3_Silent_p.L270L	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	270						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTAGATTTGGATATTTCCT	0.463000													8	75					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183721364	183721364	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:183721364G>A	ENST00000511685.1	+	28	8083	c.7960G>A	c.(7960-7962)Gag>Aag	p.E2654K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2654K					teneurin transmembrane protein 3																		GACGGAGGGCGAGAAGCGGCA	0.741000													5	23					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629828	1629828	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:1629828C>T	ENST00000381580.1	-	2	380	c.201G>A	c.(199-201)atG>atA	p.M67I	SIRPG_ENST00000381583.2_Missense_Mutation_p.M100I|SIRPG_ENST00000303415.3_Missense_Mutation_p.M100I|SIRPG_ENST00000344103.4_Missense_Mutation_p.M100I|SIRPG_ENST00000216927.4_Missense_Mutation_p.M100I			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	100	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGGAAAAGTCCATGTTGTTTC	0.473000													47	135					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101620744	101620744	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:101620744G>A	ENST00000311812.2	-	8	809	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SNX31_ENST00000428383.2_Missense_Mutation_p.A121V	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	220					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)			CAAATCTACCGCCACCCTGCA	0.512000													18	42					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995261	140995261	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:140995261C>T	ENST00000285879.4	+	4	2357	c.2071C>T	c.(2071-2073)Cct>Tct	p.P691S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	691							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCTGTCTCCTCTCCAAAT	0.567000										HNSCC(15;0.026)			35	104					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26093381	26093381	+	Silent	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:26093381C>G	ENST00000357618.5	+	5	1049	c.927C>G	c.(925-927)gtC>gtG	p.V309V	HFE_ENST00000352392.4_Silent_p.V37V|HFE_ENST00000349999.4_Silent_p.V221V|HFE_ENST00000470149.1_Silent_p.V306V|HFE_ENST00000488199.1_Silent_p.V207V|HFE_ENST00000317896.7_Silent_p.V217V|HFE_ENST00000397022.3_Silent_p.V286V|HFE_ENST00000309234.6_Silent_p.V309V|HFE_ENST00000461397.1_Silent_p.V295V|HFE_ENST00000353147.5_Silent_p.V129V|HFE_ENST00000336625.8_Silent_p.V203V	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	309					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTGGAGTCATCAGTGGAA	0.448000									Hemochromatosis				12	69					0	0	1	0	0
STAM	8027	broad.mit.edu	37	10	17750927	17750927	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:17750927G>A	ENST00000377524.3	+	13	1577	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	STAM_ENST00000540523.1_Silent_p.Q343Q	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	454					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTCCTAGTCAGCAGACTCAGG	0.502000													34	143					0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52841612	52841612	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:52841612T>A	ENST00000375503.3	+	1	385	c.22T>A	c.(22-24)Tat>Aat	p.Y8N	XAGE5_ENST00000425386.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000351072.1_Missense_Mutation_p.Y8N|XAGE5_ENST00000375501.1_Missense_Mutation_p.Y8N			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	8										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						AGGAAGAAGATATAGACCAAG	0.458000													56	40					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9453491	9453491	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:9453491G>A	ENST00000378501.2	+	33	3384	c.3369G>A	c.(3367-3369)aaG>aaA	p.K1123K	PLCB4_ENST00000278655.4_Silent_p.K1123K|PLCB4_ENST00000334005.3_Silent_p.K1123K|PLCB4_ENST00000414679.2_Silent_p.K1135K|PLCB4_ENST00000378473.3_Silent_p.K1135K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.K1123K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1123					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGAAAGAAAGAGAGTAAGTA	0.328000													15	82					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47375993	47375993	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:47375993T>C	ENST00000285039.7	-	32	4558	c.4259A>G	c.(4258-4260)gAg>gGg	p.E1420G	MYO5B_ENST00000324581.6_Missense_Mutation_p.E535G|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1420					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGCTTCCTCTCATTCTTTTC	0.473000													16	260					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314236	54314236	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:54314236A>G	ENST00000324134.6	-	3	845	c.677T>C	c.(676-678)cTg>cCg	p.L226P	NLRP12_ENST00000351894.4_Missense_Mutation_p.L226P|NLRP12_ENST00000391775.3_Missense_Mutation_p.L226P|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226P|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226P|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226P|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226P|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGTGTGCCAGCATGGACTT	0.582000													13	78					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161172214	161172214	+	Silent	SNP	C	C	A	rs139722814		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:161172214C>A	ENST00000392179.4	+	1	278	c.39C>A	c.(37-39)gtC>gtA	p.V13V	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000367993.3_Silent_p.V13V	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	13					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCCGGGGCGTCGCGGCCCAGG	0.662000													4	49					0.014758	0.0150253	1	1	0
ZNF346	23567	broad.mit.edu	37	5	176471400	176471400	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:176471400G>T	ENST00000503039.1	+	5	462	c.458G>T	c.(457-459)aGa>aTa	p.R153I	ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000358149.3_Missense_Mutation_p.R128I|ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I			Q9UL40	ZN346_HUMAN	zinc finger protein 346	128						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGCAGCAGAAGCAAAGAC	0.522000													30	83					9.17885e-22	1.0317e-21	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	84					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12243221	12243221	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:12243221C>T	ENST00000256194.4	+	10	1525	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R413C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R413C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R413C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R413C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	413						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGGCTGTGCCCGTGGCTTCCT	0.542000													42	109					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992515	67992515	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:67992515A>T	ENST00000397942.3	+	2	927	c.611A>T	c.(610-612)cAc>cTc	p.H204L	SOCS6_ENST00000582322.1_Missense_Mutation_p.H204L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	204					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTGCATCTTCACCTGGATGAA	0.493000													34	55					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136926387	136926387	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:136926387G>A	ENST00000359015.4	-	19	2999	c.2639C>T	c.(2638-2640)cCa>cTa	p.P880L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P127L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	880	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCATAAAATGGGGGTTTTCC	0.413000													22	82					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199967	128199967	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:128199967G>T	ENST00000341105.2	-	6	1669	c.1338C>A	c.(1336-1338)ttC>ttA	p.F446L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.F446L|GATA2_ENST00000430265.2_Missense_Mutation_p.F432L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	446					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CGGAGTGGCTGAAGGGCGGGA	0.657000			Mis		AML(CML blast transformation)								14	57					3.41278e-10	3.74606e-10	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	84					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77323202	77323202	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:77323202C>T	ENST00000282849.5	-	22	3927	c.3509G>A	c.(3508-3510)cGa>cAa	p.R1170Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1170	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1170L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTACAGGCTCGTAGCACCGG	0.502000													52	171					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45525432	45525432	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:45525432G>A	ENST00000221452.8	+	5	776	c.626G>A	c.(625-627)aGg>aAg	p.R209K	RELB_ENST00000505236.1_Missense_Mutation_p.R206K|RELB_ENST00000540120.1_Missense_Mutation_p.R209K	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	209	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GGCATCTGCAGGGTGCGGCTC	0.657000													34	54					0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13765904	13765904	+	Nonsense_Mutation	SNP	G	G	T	rs147117631		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:13765904G>T	ENST00000378106.5	+	1	309	c.190G>T	c.(190-192)Gag>Tag	p.E64*	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64*	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	64					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										CCGGCAGCCCGAGCCGACCAA	0.632000													5	32					0.184627	0.185287	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43038152	43038152	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:43038152G>A	ENST00000267890.6	-	15	3684	c.3576C>T	c.(3574-3576)ccC>ccT	p.P1192P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1192	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTGAGTGGCTGGGAGGTGACT	0.597000													18	73					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180659709	180659709	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:180659709G>C	ENST00000315073.5	+	3	1670	c.960G>C	c.(958-960)ctG>ctC	p.L320L	TRIM41_ENST00000351937.5_Silent_p.L320L	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	320						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGCGACTGACACGGTTTC	0.617000													10	30					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48577056	48577056	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:48577056C>A	ENST00000262384.3	-	7	2686	c.2450G>T	c.(2449-2451)gGa>gTa	p.G817V	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	817					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TGAAGGGGCTCCCTGAATCCG	0.642000													3	24					6.4e-05	6.71045e-05	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52537623	52537623	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:52537623G>A	ENST00000261839.7	-	18	2267	c.2106C>T	c.(2104-2106)ctC>ctT	p.L702L	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	702	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTGGTCATGAGAATGCCGT	0.498000													16	100					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140289794	140289794	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:140289794G>A	ENST00000340951.4	-	2	211	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Missense_Mutation_p.P6S|EXD3_ENST00000465160.2_Missense_Mutation_p.P6S	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	6					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCACCAGCGGGATCTCCTGGG	0.657000													10	49					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188592259	188592259	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:188592259G>A	ENST00000312675.4	+	11	2077	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPP_ENST00000543006.1_Missense_Mutation_p.D611N	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	611					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCGAGCACTGACCTTTAGAT	0.498000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								7	98					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819267	98819267	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:98819267G>T	ENST00000266058.4	-	11	1280	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.I345I|SLIT1_ENST00000371070.4_Silent_p.I345I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	345					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.I345I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAATCTCAGCGATCTGATTGT	0.612000													4	68					0.150653	0.152279	1	1	0
DSTYK	25778	broad.mit.edu	37	1	205116748	205116748	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:205116748T>C	ENST00000367162.3	-	13	2758	c.2728A>G	c.(2728-2730)Atg>Gtg	p.M910V	DSTYK_ENST00000367160.4_Missense_Mutation_p.M569V|DSTYK_ENST00000367161.3_Missense_Mutation_p.M865V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	910						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGCCGATTCATGATGCCCTGG	0.498000													85	75					0	0	1	0	0
CWF19L1	55280	broad.mit.edu	37	10	102020035	102020035	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:102020035T>G	ENST00000354105.4	-	4	315	c.229A>C	c.(229-231)Aca>Cca	p.T77P		NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	77							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TATTTTACTGTTTCCTGGTTA	0.348000													15	86					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128481	152128481	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152128481G>C	ENST00000316073.3	-	3	1158	c.1094C>G	c.(1093-1095)tCc>tGc	p.S365C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	365	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGTAGTGGGAACCCTGGCC	0.473000													192	1599					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:72663998T>G	ENST00000425256.1	-	0	902																											ATAGCCGGGGTCCTTGAATAC	0.488000													3	61					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969703	2969703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:2969703C>T	ENST00000396946.4	-	12	1979	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	526					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCGTGCCCCTTGGCTGTC	0.602000			Mis		DLBCL								11	65					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611673	44611673	+	Silent	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:44611673T>C	ENST00000273320.3	+	6	1500	c.1071T>C	c.(1069-1071)taT>taC	p.Y357Y	RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.Y357Y	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		ATGACAAATATAAGGAAGTTG	0.383000													26	139					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96498878	96498878	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:96498878C>G	ENST00000283109.3	-	10	1614	c.1546G>C	c.(1546-1548)Gct>Cct	p.A516P	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	516	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CGTCTGACAGCTGATTTTTGC	0.363000													5	42					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569784	52569784	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:52569784G>A	ENST00000389534.4	-	7	1810	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZNF841_ENST00000594295.1_Missense_Mutation_p.H451Y|ZNF841_ENST00000359973.2_Missense_Mutation_p.H335Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H335Y|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTCCAGTATGAATTATCTGG	0.408000													8	30					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619153	64619153	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:64619153A>T	ENST00000498707.1	-	14	2512	c.2170T>A	c.(2170-2172)Tgc>Agc	p.C724S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C696S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	724	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTACCCGGCAAAGGCCCTGG	0.488000													15	154					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725468	41725468	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr21:41725468C>T	ENST00000400454.1	-	5	1335	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	286	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCTGAGTCCGAGGGGCGAA	0.527000													14	116					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770225	31770225	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:31770225G>C	ENST00000240587.4	-	2	801	c.474C>G	c.(472-474)agC>agG	p.S158R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	158	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgccacagctgctgctgctgc	0.622000													7	45					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70867962	70867962	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:70867962C>T	ENST00000393567.2	-	79	13657	c.13507G>A	c.(13507-13509)Gaa>Aaa	p.E4503K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4503										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAACACTTCCTCAGAGAAG	0.557000													15	49					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723370	21723370	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:21723370G>A	ENST00000399496.3	+	3	357	c.192G>A	c.(190-192)caG>caA	p.Q64Q	CABYR_ENST00000581397.1_Silent_p.Q64Q|CABYR_ENST00000415309.2_Silent_p.Q64Q|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Silent_p.Q64Q	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	64					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATTTCATCAGATTAAAGGTA	0.289000													7	9					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661040	44661040	+	Missense_Mutation	SNP	G	G	A	rs146772061	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:44661040G>A	ENST00000426739.2	+	6	1129	c.871G>A	c.(871-873)Gat>Aat	p.D291N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D291N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTCAAATGTGATACATGTGG	0.423000													31	199					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240447	3240447	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:3240447G>A	ENST00000217939.6	-	5	3433	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1093						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGCAAAGTGATGGATTTGC	0.488000													16	30					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154076507	154076507	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:154076507G>C	ENST00000368559.3	-	13	1871	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	NUP210L_ENST00000271854.3_Silent_p.V600V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	600						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAAGAGTAAAGACTCCTTGTT	0.353000													4	109					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3300970	3300970	+	Silent	SNP	C	C	G	rs61735439	byFrequency	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:3300970C>G	ENST00000322608.2	-	1	734	c.735G>C	c.(733-735)ctG>ctC	p.L245L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						ACACCACAGACAGGTGGGAGC	0.458000													4	107					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412305	63412305	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:63412305C>T	ENST00000330258.3	-	2	1134	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	AMER1_ENST00000403336.1_Missense_Mutation_p.E288K|AMER1_ENST00000374869.3_Missense_Mutation_p.E288K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCCTGTTTCTGGGCTATGG	0.562000													24	125					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156085052	156085052	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:156085052G>A	ENST00000368300.4	+	1	555	c.343G>A	c.(343-345)Gag>Aag	p.E115K	LMNA_ENST00000361308.4_Missense_Mutation_p.E115K|LMNA_ENST00000368299.3_Missense_Mutation_p.E115K|LMNA_ENST00000368301.2_Missense_Mutation_p.E115K|LMNA_ENST00000347559.2_Missense_Mutation_p.E115K	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	115	Coil 1B.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGAGTTTAAGGAGCTGAAAGC	0.697000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				12	23					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421180	37421180	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:37421180C>T	ENST00000374660.1	+	4	454	c.355C>T	c.(355-357)Cca>Tca	p.P119S	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P119S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P119S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	175						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGCCTCACACCACTTTTACT	0.289000													8	43					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081508	126081508	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:126081508G>C	ENST00000298317.4	-	1	79	c.26C>G	c.(25-27)tCg>tGg	p.S9W	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.S9W	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	9					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CCAGGGGCCCGACGCGCTCCA	0.642000													35	127					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352121	15352121	+	RNA	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr21:15352121C>T	ENST00000344693.5	-	0	637					NR_027270.1																						TGTGGATCTTCTGCAGTTCCG	0.637000													4	47					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038422	159038422	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:159038422G>T	ENST00000368130.4	-	3	620	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	111					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GATGGCTGCAGATGCAGCAGG	0.418000													18	110					5.35267e-07	5.76283e-07	1	1	0
BCL7B	9275	broad.mit.edu	37	7	72954277	72954277	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:72954277G>T	ENST00000223368.2	-	4	794	c.371C>A	c.(370-372)gCa>gAa	p.A124E	BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	124							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGTGTGCTGGGCTCAG	0.602000													4	53					0.184627	0.185287	1	1	0
CYP26C1	340665	broad.mit.edu	37	10	94828376	94828376	+	Silent	SNP	C	C	T	rs140502479	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:94828376C>T	ENST00000285949.5	+	6	1491	c.1491C>T	c.(1489-1491)atC>atT	p.I497I		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	497					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				CGGTGCCCATCGTGCACCCAG	0.662000													8	16					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723081	21723081	+	Translation_Start_Site	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:21723081G>A	ENST00000399496.3	+	2	168	c.3G>A	c.(1-3)atG>atA	p.M1I	CABYR_ENST00000581397.1_Start_Codon_SNP_p.M1I|CABYR_ENST00000415309.2_Start_Codon_SNP_p.M1I|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Start_Codon_SNP_p.M1I	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	1					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTGCCAAAATGATTTCTTCAA	0.363000													39	88					0	0	1	0	0
SMURF1	57154	broad.mit.edu	37	7	98645504	98645504	+	Splice_Site	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:98645504G>A	ENST00000361125.1	-	11	1352	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Splice_Site_p.H319Y	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	345					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCACTGGTGACTTGAGAAG	0.602000													40	130					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52789600	52789600	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:52789600C>T	ENST00000216862.3	-	2	690	c.297G>A	c.(295-297)atG>atA	p.M99I	CYP24A1_ENST00000395955.3_Missense_Mutation_p.M99I	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	99					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AACCCAACTTCATGCGGAAAA	0.632000													17	95					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249711	110249711	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:110249711C>G	ENST00000374672.4	-	3	1437	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	322	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						AGCACTTCCTCAAGACCCAGG	0.687000													4	28					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639573	94639573	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:94639573G>A	ENST00000260526.6	-	23	3820	c.3638C>T	c.(3637-3639)tCa>tTa	p.S1213L		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1213					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGGACAAGCTGATGCTTTGTC	0.537000													28	72					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756195	52756195	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:52756195C>T	ENST00000257901.3	-	7	1213	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	KRT85_ENST00000544265.1_Missense_Mutation_p.D168N	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	380	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCGGGCATCGCTGAGGGCC	0.617000													24	87					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34916671	34916671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:34916671C>T	ENST00000304718.4	+	5	803	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	163					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGAGATGTCAGTTGCACTC	0.303000													14	30					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874099	151874099	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:151874099C>G	ENST00000355193.2	-	38	8657	c.8439G>C	c.(8437-8439)caG>caC	p.Q2813H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q2813H					lysine (K)-specific methyltransferase 2C																		TGGATTTTTTCTGTGGTGAAT	0.328000													20	84					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607978	84607978	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:84607978G>C	ENST00000344803.2	+	4	2640	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GTCTCTTCCTGAGAAATCCCA	0.438000													16	58					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961591	41961591	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:41961591G>A	ENST00000298919.7	+	9	1082	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PDZRN4_ENST00000402685.2_Missense_Mutation_p.E492K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E234K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	492	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCAGCTGGATGAAGGCTGGCT	0.398000													11	57					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592000													61	283					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	101981761	101981761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:101981761C>G	ENST00000282441.5	+	1	570	c.182C>G	c.(181-183)tCg>tGg	p.S61W	YAP1_ENST00000537274.1_Missense_Mutation_p.S61W|YAP1_ENST00000531439.1_Missense_Mutation_p.S61W|YAP1_ENST00000345877.2_Missense_Mutation_p.S61W|YAP1_ENST00000526343.1_Missense_Mutation_p.S61W	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	61					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CGCGGGGACTCGGAGACCGAC	0.741000													3	25					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117053301	117053301	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:117053301C>G	ENST00000368564.1	+	14	1583	c.1435C>G	c.(1435-1437)Ctg>Gtg	p.L479V	KPNA5_ENST00000356348.1_Missense_Mutation_p.L479V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	476					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TATAACAGGTCTGGATAAAAT	0.244000													13	38					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522556	67522556	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:67522556G>A	ENST00000521381.1	+	2	669	c.53G>A	c.(52-54)aGa>aAa	p.R18K	PIK3R1_ENST00000521657.1_Missense_Mutation_p.R18K|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R18K|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R18K	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	18	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAGGAAAGAGAAGAAGAT	0.448000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			30	90					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88039797	88039797	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:88039797C>G	ENST00000393207.1	+	6	778	c.557C>G	c.(556-558)tCt>tGt	p.S186C	BANP_ENST00000355022.4_Missense_Mutation_p.S155C|BANP_ENST00000538234.1_Missense_Mutation_p.S194C|BANP_ENST00000286122.7_Missense_Mutation_p.S186C|BANP_ENST00000393208.2_Missense_Mutation_p.S155C|BANP_ENST00000355163.5_Missense_Mutation_p.S161C|BANP_ENST00000479780.2_Missense_Mutation_p.S155C	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	186	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCAGCGACTCTGTGTCCAGC	0.662000													17	131					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619154	64619154	+	Silent	SNP	A	A	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:64619154A>C	ENST00000498707.1	-	14	2511	c.2169T>G	c.(2167-2169)ctT>ctG	p.L723L	ADAMTS9_ENST00000295903.4_Silent_p.L695L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	723	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACCCGGCAAAGGCCCTGGA	0.488000													15	156					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307816	46307816	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:46307816G>A	ENST00000221538.3	-	3	1489	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	RSPH6A_ENST00000600188.1_Silent_p.I185I|RSPH6A_ENST00000597055.1_Silent_p.I449I	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	449						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGGCGTTCACGATCTGGGCTG	0.622000													30	96					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671863	49671863	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:49671863G>A	ENST00000561648.1	-	4	1253	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	ZNF423_ENST00000567169.1_Silent_p.D283D|ZNF423_ENST00000262383.2_Silent_p.D400D|ZNF423_ENST00000562871.1_Silent_p.D340D|ZNF423_ENST00000562520.1_Silent_p.D340D|ZNF423_ENST00000535559.1_Silent_p.D283D|ZNF423_ENST00000563137.2_Silent_p.D340D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	400					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGCCCTGCCCGTCATCCCGCA	0.632000													8	67					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062361	76062361	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:76062361G>A	ENST00000260045.3	-	5	1938	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	611					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTTGTCCCATGACTGAGGGTA	0.428000													43	120					0	0	1	0	0
C8orf37	157657	broad.mit.edu	37	8	96275953	96275953	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:96275953C>T	ENST00000286688.5	-	2	216	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	69										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCAAGTATTTCATTAATAAGA	0.313000													18	32					0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360261	71360261	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:71360261C>T	ENST00000244230.2	+	2	675	c.323C>T	c.(322-324)cCa>cTa	p.P108L	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.P108L|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	108					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGTCTTCTCCCAGAGAGTGAA	0.408000													9	39					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253312	174253312	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:174253312C>T	ENST00000296503.5	-	5	1422	c.549G>A	c.(547-549)aaG>aaA	p.K183K	HMGB2_ENST00000438704.2_Silent_p.K183K|HMGB2_ENST00000446922.2_Silent_p.K183K			P26583	HMGB2_HUMAN	high mobility group box 2	183					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		gttcgttcttcttcttTGAGC	0.428000													13	51					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653075	153653075	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153653075G>A	ENST00000368680.3	+	2	1292	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	274					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTTCCACCTGGATATCTTTGG	0.597000													13	80					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892261	11892261	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:11892261G>A	ENST00000357901.4	+	4	1724	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	ZNF441_ENST00000454339.2_Missense_Mutation_p.R474K	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGCTTCAGGTCTTCCAGT	0.423000													28	58					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34097869	34097869	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:34097869G>A	ENST00000397527.1	+	34	7771	c.7051G>A	c.(7051-7053)Gaa>Aaa	p.E2351K	CEP250_ENST00000342580.4_Missense_Mutation_p.E2295K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2351					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTGTGTGGCTGAACTGCAGAA	0.522000													28	52					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141561491	141561491	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:141561491C>T	ENST00000220592.5	-	11	1426	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R	AGO2_ENST00000519980.1_Silent_p.R438R	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		ACTGCTTGTTCCGCATGTCCC	0.537000													26	144					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162380432	162380432	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:162380432C>G	ENST00000306100.5	-	14	2084	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	FSTL5_ENST00000379164.4_Missense_Mutation_p.D549H|FSTL5_ENST00000536695.1_Missense_Mutation_p.D549H|FSTL5_ENST00000427802.2_Missense_Mutation_p.D540H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	550						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTGATTTGTCATAGTGTAAT	0.373000													15	66					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5892002	5892002	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:5892002G>A	ENST00000581347.2	-	3	706	c.61C>T	c.(61-63)Cca>Tca	p.P21S	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.P21S			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						ATCTGGCTTGGGGGGCGGAGT	0.607000													10	77					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922768	96922768	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr14:96922768C>T	ENST00000267584.4	+	11	1227	c.1183C>T	c.(1183-1185)Cac>Tac	p.H395Y		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	395	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CAAACTGCATCACATCCAACT	0.393000													29	38					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123062324	123062324	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:123062324G>C	ENST00000333479.7	+	31	3004	c.2827G>C	c.(2827-2829)Gat>Cat	p.D943H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	943					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAAGAGCCAGATCATTCTAA	0.368000													14	50					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671633	92671633	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:92671633G>A	ENST00000318445.6	+	7	1640	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.E476K	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	476	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TAATAACTGTGAATGCCAAAC	0.537000													22	127					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50861948	50861948	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:50861948C>T	ENST00000359139.3	+	10	1424	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	PPP6R2_ENST00000395741.3_Silent_p.L345L|PPP6R2_ENST00000216061.5_Silent_p.L344L|PPP6R2_ENST00000395744.3_Silent_p.L344L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	344						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAATGCCCGTCTGCATGGCGC	0.592000													31	64					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53338236	53338236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:53338236C>A	ENST00000607628.1	-	6	704	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	DCP1A_ENST00000294241.6_Nonsense_Mutation_p.E199*|DCP1A_ENST00000606822.1_Intron|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	199					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGCATTTCTTCTAGAGTCTCG	0.428000													9	74					0.000274275	0.000285449	1	1	0
FPR2	2358	broad.mit.edu	37	19	52272667	52272667	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:52272667C>T	ENST00000598776.1	+	2	1528	c.756C>T	c.(754-756)atC>atT	p.I252I	FPR2_ENST00000598953.1_Silent_p.I252I|FPR2_ENST00000340023.6_Silent_p.I252I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	252					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTTCTTCATCTGTTGGTTTC	0.483000													7	41					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:21606712T>C	ENST00000392288.2	+	4	1360	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000													4	67					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801295	80801295	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:80801295A>G	ENST00000466387.1	+	17	2473	c.1749A>G	c.(1747-1749)ccA>ccG	p.P583P	CTNNA2_ENST00000540488.1_Silent_p.P583P|CTNNA2_ENST00000361291.4_Silent_p.P617P|CTNNA2_ENST00000343114.3_Silent_p.P262P|CTNNA2_ENST00000402739.4_Silent_p.P583P|CTNNA2_ENST00000541047.1_Silent_p.P583P|CTNNA2_ENST00000496558.1_Silent_p.P583P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	583					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGTGATGCCACGCTTCGCTG	0.498000													18	80					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34098449	34098449	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:34098449C>T	ENST00000361264.4	-	5	1009	c.668G>A	c.(667-669)aGa>aAa	p.R223K		NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	223						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CACATTGTGTCTCGCATCACT	0.502000													13	75					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857359	50857359	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:50857359C>A	ENST00000359139.3	+	7	1076	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	PPP6R2_ENST00000395741.3_Missense_Mutation_p.Q228K|PPP6R2_ENST00000216061.5_Missense_Mutation_p.Q228K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.Q228K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	228						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCAGGGCAGTCAGCTGCAAGA	0.587000													53	90					1.81118e-26	2.04394e-26	1	1	0
RPTN	126638	broad.mit.edu	37	1	152129395	152129395	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152129395G>C	ENST00000316073.3	-	3	244	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	60	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTGATCTAAGAGGTTCAAGA	0.413000													29	195					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5760784	5760784	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:5760784C>A	ENST00000425013.2	-	9	1577	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	RNF216_ENST00000389902.3_Missense_Mutation_p.K508N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	451					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGAACATCCTCTTTTCTATTT	0.453000													9	79					0.000274275	0.000285449	1	1	0
S100A1	6271	broad.mit.edu	37	1	153604179	153604179	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153604179G>A	ENST00000368698.3	+	4	453	c.306G>A	c.(304-306)caG>caA	p.Q102Q	S100A13_ENST00000368699.1_Intron|S100A1_ENST00000292169.1_Silent_p.Q49Q|S100A1_ENST00000368696.3_3'UTR|RP1-178F15.4_ENST00000607839.1_RNA|S100A1_ENST00000469893.1_3'UTR|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000469931.2_RNA			P23297	S10A1_HUMAN	S100 calcium binding protein A1	49					intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|calcium ion binding|protein homodimerization activity|S100 alpha binding|S100 beta binding			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	CACAGGCCCAGAAGGATGTGG	0.567000													181	443					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480090	52480090	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:52480090G>T	ENST00000219746.9	-	5	1006	c.722C>A	c.(721-723)cCc>cAc	p.P241H	TOX3_ENST00000407228.3_Missense_Mutation_p.P236H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	241					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGTCTTGGGCTTCTTGCC	0.448000													6	41					2.0095e-06	2.1389e-06	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777120	18777120	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr9:18777120C>T	ENST00000380548.4	+	19	3232	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	965						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGAGGCAACCGCAAGCTCGT	0.647000													9	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582797	55582797	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:55582797C>T	ENST00000361849.3	-	34	5089	c.4695G>A	c.(4693-4695)ctG>ctA	p.L1565L	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.L1560L|PCDH15_ENST00000395433.1_Silent_p.L1540L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.L1523L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.L1563L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Silent_p.L1494L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1563					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGGCCCCTCAGAGACTTAC	0.423000										HNSCC(58;0.16)			38	91					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128785	152128785	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152128785G>C	ENST00000316073.3	-	3	854	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	264	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GATTTCTGTTGATTTGTCTGG	0.443000													77	634					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122710529	122710529	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:122710529G>A	ENST00000443649.3	-	2	850	c.33C>T	c.(31-33)agC>agT	p.S11S	DIABLO_ENST00000353548.6_Silent_p.S11S|DIABLO_ENST00000267169.6_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000413918.1_Silent_p.S11S	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	11					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ATGAAGTTACGCTGCGCGACA	0.697000													4	13					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45368567	45368567	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:45368567G>A	ENST00000252483.5	+	2	128	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	PVRL2_ENST00000252485.4_Missense_Mutation_p.R43Q	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	43	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCCGAGGTGCGAGGCCAGCTC	0.652000													17	95					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127512247	127512247	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:127512247G>A	ENST00000299130.3	+	1	133	c.121G>A	c.(121-123)Gac>Aac	p.D41N	BCCIP_ENST00000278100.6_Missense_Mutation_p.D41N|BCCIP_ENST00000368759.5_Missense_Mutation_p.D41N|BCCIP_ENST00000429863.2_Missense_Mutation_p.D41N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	41					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				agacgatgatgacagtgacaa	0.522000													29	53					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29917130	29917130	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:29917130G>A	ENST00000308748.5	+	3	1337	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ASPHD1_ENST00000483405.1_Missense_Mutation_p.R81Q	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	362					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GATGGGCCTCGAGTGGTCTTC	0.592000													7	61					0	0	1	0	0
GID4	79018	broad.mit.edu	37	17	17962245	17962245	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:17962245G>A	ENST00000268719.4	+	4	843	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_024052.4	NP_076957.3			GID complex subunit 4									p.E224*(1)									TGATTATGAAGAGCTGAAGAA	0.468000													13	44					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128407	152128407	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152128407G>A	ENST00000316073.3	-	3	1232	c.1168C>T	c.(1168-1170)Cac>Tac	p.H390Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	390	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAGTGAGAACTCTGA	0.498000													212	1546					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													4	46					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211889	71211889	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:71211889G>A	ENST00000457410.1	+	6	1089	c.950G>A	c.(949-951)aGg>aAg	p.R317K	ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R351K|ANKRD53_ENST00000441349.1_3'UTR|AC007040.11_ENST00000606025.1_Intron			Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	351										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGTTCCAGGAGCTTCCAC	0.632000											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187088876	187088876	+	Silent	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:187088876C>A	ENST00000259030.2	+	2	566	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	152					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ATGACACAGCCAATTGTGAGG	0.483000													22	45					2.70639e-06	2.8698e-06	1	1	0
EMD	2010	broad.mit.edu	37	X	153608140	153608140	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:153608140C>G	ENST00000369842.4	+	2	461	c.173C>G	c.(172-174)tCt>tGt	p.S58C	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	58	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCGCCTCCTCTTATAGCTTC	0.667000													21	48					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175722261	175722261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:175722261C>T	ENST00000443967.1	+	5	2010	c.1603C>T	c.(1603-1605)Caa>Taa	p.Q535*	SIMC1_ENST00000429602.2_Nonsense_Mutation_p.Q554*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.Q120*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.Q120*					SUMO-interacting motifs containing 1																		CATGAAAATTCAACAGTATGA	0.453000													7	16					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	73					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259934	16259934	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:16259934C>A	ENST00000375759.3	+	11	7403	c.7199C>A	c.(7198-7200)tCt>tAt	p.S2400Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2400	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCATGTACTTCTGACCTAAGC	0.522000													20	49					4.96729e-08	5.41011e-08	1	1	0
MGAM	8972	broad.mit.edu	37	7	141773904	141773904	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:141773904C>G	ENST00000475668.2	+	45	5260	c.5206C>G	c.(5206-5208)Ctt>Gtt	p.L1736V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1736	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTCTTGGTCTTATTATTGC	0.408000													10	21					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													4	18					0.000602214	0.000624436	1	1	0
CNGB1	1258	broad.mit.edu	37	16	57935322	57935322	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:57935322C>T	ENST00000564448.1	-	29	2952	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	CNGB1_ENST00000251102.8_Missense_Mutation_p.M970I			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	970					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGTCAAAGATCATCTGCCGGT	0.572000													19	132					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200028	128200028	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:128200028G>A	ENST00000341105.2	-	6	1608	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.S426F|GATA2_ENST00000430265.2_Missense_Mutation_p.S412F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	426					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACTGAAGGGGGATGACTTCTC	0.602000			Mis		AML(CML blast transformation)								17	91					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945577	16945577	+	RNA	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:16945577C>G	ENST00000412962.1	-	0	1942																											GCCATCTTCTCAGACTCCTTC	0.612000													56	513					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5284737	5284737	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:5284737G>C	ENST00000262477.6	+	17	2648	c.2424G>C	c.(2422-2424)caG>caC	p.Q808H	RABEP1_ENST00000341923.6_Missense_Mutation_p.Q775H|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q808H|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q775H|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q765H	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	808					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAGATTACAGACAGAATTAG	0.408000													12	62					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343093	118343093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:118343093C>T	ENST00000534358.1	+	3	1242	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R407*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R407*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAAAAATATTCGACAGTTCAT	0.443000													37	103					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592460	81592460	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:81592460G>A	ENST00000394660.2	+	14	3153	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	IL16_ENST00000394652.2_Silent_p.Q230Q|IL16_ENST00000302987.4_Silent_p.Q931Q	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	931					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCCCAATCAGAAAACTCTCC	0.642000													4	67					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128362	152128362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152128362G>A	ENST00000316073.3	-	3	1277	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	405	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTCTCTGTCTGACCATAGTGA	0.512000													210	1651					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798273	241798273	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:241798273G>A	ENST00000366553.1	-	1	959	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	266					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGAAATGCAAGAATCCTAGTG	0.358000													15	57					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134997394	134997394	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:134997394G>A	ENST00000304613.3	+	5	547	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E176K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E111K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	176	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCGCTGTGTGAAGAGAAGCT	0.657000													19	112					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231954236	231954236	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:231954236G>A	ENST00000439617.2	+	9	2007	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	DISC1_ENST00000366636.4_Missense_Mutation_p.E652K|DISC1_ENST00000366633.3_Missense_Mutation_p.E652K|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.E652K|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.E652K|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	652	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACTGAGAAGAGAAGTGGAGCA	0.468000													23	95					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228242	28228242	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:28228242G>A	ENST00000343684.3	+	1	1145	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	365										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAGTGCTGATGAGAAGAGAGC	0.448000													31	120					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598831	153598831	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153598831C>G	ENST00000368699.1	-	4	621	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	S100A13_ENST00000392622.1_Missense_Mutation_p.E40Q|S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Missense_Mutation_p.E40Q|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000339556.4_Missense_Mutation_p.E40Q|S100A13_ENST00000392623.1_Missense_Mutation_p.E40Q	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	40	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GTAACCAGCTCTTTGAACTCG	0.522000													76	399					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113345005	113345005	+	Silent	SNP	C	C	T	rs150661858		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488000													51	186					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90172276	90172276	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:90172276G>A	ENST00000394412.3	-	18	3671	c.3595C>T	c.(3595-3597)Cgt>Tgt	p.R1199C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1199					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CACATGTAACGGCCCAGTTCC	0.562000													37	67					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134152289	134152289	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:134152289C>G	ENST00000452510.2	+	19	2764	c.2606C>G	c.(2605-2607)tCt>tGt	p.S869C	DDX46_ENST00000354283.4_Missense_Mutation_p.S869C	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	869					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCATCGAGTCTCAGGTATTA	0.358000													8	31					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12371683	12371683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:12371683C>T	ENST00000269143.3	-	2	353	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	41					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TGTAACAAATCGGTAAAGCTG	0.348000													14	56					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406314	38406314	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:38406314G>A	ENST00000322350.5	+	7	1145	c.799G>A	c.(799-801)Gac>Aac	p.D267N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D33N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D267N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	267						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTTGAAGACGACTTAGATTT	0.453000													10	89					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505329	186505329	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:186505329T>G	ENST00000323963.5	+	9	1019	c.955T>G	c.(955-957)Ttc>Gtc	p.F319V	EIF4A2_ENST00000356531.5_Missense_Mutation_p.F224V|EIF4A2_ENST00000440191.2_Missense_Mutation_p.F320V			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	319	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CATGAGGGAATTCCGGTCAGG	0.398000			T	BCL6	NHL								47	135					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653074	153653074	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153653074G>C	ENST00000368680.3	+	2	1291	c.819G>C	c.(817-819)ctG>ctC	p.L273L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	273					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCTTCCACCTGGATATCTTTG	0.602000													13	78					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047547	55047547	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:55047547G>A	ENST00000330807.5	-	5	713	c.576C>T	c.(574-576)tcC>tcT	p.S192S	ALAS2_ENST00000396198.3_Silent_p.S179S|ALAS2_ENST00000335854.4_Silent_p.S155S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	192					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TACACCAGACGGACACATCCT	0.527000													26	22					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851371	43851371	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:43851371G>A	ENST00000372769.3	+	2	1188	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	366	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGGGCATCCAGAAAGGTGTAT	0.388000													39	140					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72307085	72307085	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:72307085G>A	ENST00000263563.6	+	18	2413	c.2145G>A	c.(2143-2145)ctG>ctA	p.L715L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGGTGCAGCTGCTACCCGATG	0.592000													35	221					0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41121499	41121499	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:41121499G>T	ENST00000373127.4	-	2	421	c.373C>A	c.(373-375)Cca>Aca	p.P125T	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Missense_Mutation_p.P125T	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	125					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AACTCACCTGGGGGCAGTATG	0.612000													18	161					1.99824e-07	2.15963e-07	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42855382	42855382	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:42855382C>T	ENST00000200557.6	+	24	2302	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	ADAM11_ENST00000535346.1_Silent_p.I511I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	711					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACTGCAGTATCCATAACCCCC	0.612000													92	181					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21713389	21713389	+	Splice_Site	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:21713389A>G	ENST00000358491.4	+	3	338		c.e3-1		ZNF429_ENST00000594022.1_Splice_Site|ZNF429_ENST00000597078.1_Splice_Site	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATAAAACAGGTATTGCTG	0.333000													12	52					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217666	87217666	+	Splice_Site	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:87217666C>T	ENST00000441037.2	+	22	3177	c.3082C>T	c.(3082-3084)Cga>Tga	p.R1028*	AGBL1_ENST00000389298.3_Splice_Site_p.R759*|AGBL1_ENST00000421325.2_Splice_Site_p.R1028*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1028					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCACCTCCAACGGTAAGATGC	0.532000													14	15					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79985563	79985563	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:79985563C>T	ENST00000306688.3	+	8	1189	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	283						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTCGGCAGCCCGTGTAGGGCA	0.607000													5	24					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3414972	3414972	+	Silent	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:3414972G>C	ENST00000356575.4	-	26	3541	c.3315C>G	c.(3313-3315)ctC>ctG	p.L1105L	MEGF6_ENST00000294599.4_Silent_p.L914L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1105	EGF-like 20.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGGCTGGGCAGAGGCAGCGGC	0.711000													9	7					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908332	103908332	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:103908332C>T	ENST00000302259.3	+	1	1025	c.782C>T	c.(781-783)tCg>tTg	p.S261L	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	261					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TTTGTTGACTCGGGCGCCCAG	0.527000													40	123					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142188196	142188196	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:142188196T>C	ENST00000350721.4	-	38	6656	c.6535A>G	c.(6535-6537)Atg>Gtg	p.M2179V	ATR_ENST00000383101.3_Missense_Mutation_p.M2115V|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2179	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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						ACAGCTGTCATCATCCACATT	0.318000								Other conserved DNA damage response genes					22	82					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	12					0.004672	0.00480891	1	1	0
ABCA4	24	broad.mit.edu	37	1	94574256	94574256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:94574256G>A	ENST00000370225.3	-	4	405	c.319C>T	c.(319-321)Cga>Tga	p.R107*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R107*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	107					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAAAATCTCGATATACCCTT	0.388000													25	54					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112757	81112757	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:81112757C>T	ENST00000228644.3	+	3	847	c.695C>T	c.(694-696)cCa>cTa	p.P232L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	232					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCTCTCTCTCCAGTTGCCAGC	0.488000													24	75					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91341440	91341440	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:91341440G>A	ENST00000355112.3	+	17	3349	c.3231G>A	c.(3229-3231)gtG>gtA	p.V1077V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V1077V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1077					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAAGAGATGTGACTGACGATG	0.294000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				10	50					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													5	87					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428448	72428448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:72428448C>G	ENST00000477973.2	-	2	553	c.554G>C	c.(553-555)gGa>gCa	p.G185A		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein		Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GGACTAATTTCCTTGTCTTTC	0.388000													15	145					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132249921	132249921	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:132249921A>G	ENST00000260818.6	+	55	6853	c.6605A>G	c.(6604-6606)cAa>cGa	p.Q2202R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2202							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTGAGTCACAAACAGCAGGA	0.423000													25	71					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145594092	145594092	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:145594092C>T	ENST00000334163.3	-	14	1630	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	490					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GAGCTGTGATCATCTCCTCTA	0.443000													37	170					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193795	28193795	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:28193795C>T	ENST00000302326.4	-	1	3691	c.2737G>A	c.(2737-2739)Ggg>Agg	p.G913R		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	913							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						GTGCCGTCCCCCTGGGCTGGA	0.741000			T	ETV6	"""AML, meningioma"""								7	24					0	0	1	0	0
FAM63A	55793	broad.mit.edu	37	1	150970638	150970638	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:150970638G>A	ENST00000361936.5	-	9	2047	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	FAM63A_ENST00000361738.6_Missense_Mutation_p.H413Y|FAM63A_ENST00000493834.2_Missense_Mutation_p.H270Y|FAM63A_ENST00000312210.5_Missense_Mutation_p.H223Y	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	365							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGACTCAGGTGAAAGTCAGAG	0.562000													106	227					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63195969	63195969	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:63195969C>A	ENST00000399298.3	-	2	597	c.229G>T	c.(229-231)Gtt>Ttt	p.V77F	TMEM26_ENST00000399293.1_Missense_Mutation_p.V77F	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	77						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AATGATGGAACGATGCTAATC	0.323000													19	23					1.00905e-13	1.12517e-13	1	1	0
TRIP13	9319	broad.mit.edu	37	5	893166	893166	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:893166C>T	ENST00000166345.3	+	1	409	c.53C>T	c.(52-54)tCg>tTg	p.S18L		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	18					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GTGGCCGAGTCGCCAACGGTC	0.731000													4	24					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971040	118971040	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:118971040C>A	ENST00000409993.2	-	6	2126	c.575G>T	c.(574-576)gGc>gTc	p.G192V	DPAGT1_ENST00000432443.2_Missense_Mutation_p.G85V|DPAGT1_ENST00000354202.4_Missense_Mutation_p.G192V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	192					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCCTCTAGGCCGTTAATTCC	0.507000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	106					1.67305e-13	1.85821e-13	1	1	0
PPP1R9B	84687	broad.mit.edu	37	17	48213403	48213403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:48213403G>A	ENST00000316878.6	-	10	2229	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	743	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TACTGCGCCTGAGTCTCCCGC	0.642000													8	22					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91346861	91346861	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:91346861G>A	ENST00000355112.3	+	18	3587	c.3469G>A	c.(3469-3471)Gaa>Aaa	p.E1157K	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1157					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATTTTGGATGAAGACTTATA	0.358000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				41	51					0	0	1	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549209	44549209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr18:44549209C>A	ENST00000451265.1	-	1	1325	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						AGAACGGGTTCAAGAACCGAG	0.612000													32	771					6.00712e-18	6.72511e-18	1	1	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	46					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151130	145151130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:145151130G>T	ENST00000318911.4	+	3	503	c.430G>T	c.(430-432)Gaa>Taa	p.E144*		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	144	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGGAGGATGAAGCTAAGGA	0.627000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	328					3.2641e-12	3.61107e-12	1	1	0
ABCA12	26154	broad.mit.edu	37	2	216002880	216002880	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:216002880C>T	ENST00000272895.7	-	1	271	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	ABCA12_ENST00000412081.1_Missense_Mutation_p.G18S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	18					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTACACCTAGCCAATTT	0.438000													6	228					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839183	93839183	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:93839183C>T	ENST00000315765.9	+	17	2940	c.2932C>T	c.(2932-2934)Ctc>Ttc	p.L978F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	978	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTTTGGGAATCTCCATGGCCT	0.338000													12	35					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:153588591G>A	ENST00000422373.1	-	22	3820	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	68					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945508	16945508	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:16945508C>A	ENST00000412962.1	-	0	2011																											TTCTGCCGCTCCATCTCCAGG	0.637000													24	360					1.9806e-07	2.14883e-07	1	1	0
PRPF3	9129	broad.mit.edu	37	1	150325454	150325454	+	Nonstop_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:150325454G>C	ENST00000324862.6	+	16	2216	c.2051G>C	c.(2050-2052)tGa>tCa	p.*684S	PRPF3_ENST00000414970.2_Nonstop_Mutation_p.*635S|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	0					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TCCACTGATTGAGACTACTGC	0.493000													35	121					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458116	20458116	+	Silent	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:20458116C>G	ENST00000426804.1	-	1	3670	c.3186G>C	c.(3184-3186)cgG>cgC	p.R1062R		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCAGCAAGTCCCGTGGCAGCC	0.662000													10	35					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20691172	20691172	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:20691172G>A	ENST00000404938.2	+	13	2114	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	ABCB5_ENST00000406935.1_Missense_Mutation_p.D43N|ABCB5_ENST00000443026.2_Missense_Mutation_p.D43N|ABCB5_ENST00000258738.6_Missense_Mutation_p.D43N|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	43	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGGACGAGATGATGTGACTGA	0.438000													27	161					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587548	110587548	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:110587548C>T	ENST00000399066.3	-	6	2297	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	SYBU_ENST00000529175.1_Missense_Mutation_p.D321N|SYBU_ENST00000424158.2_Missense_Mutation_p.D532N|SYBU_ENST00000532779.1_Missense_Mutation_p.D459N|SYBU_ENST00000419099.1_Missense_Mutation_p.D526N|SYBU_ENST00000440310.1_Missense_Mutation_p.D527N|SYBU_ENST00000408889.3_Missense_Mutation_p.D408N|SYBU_ENST00000422135.1_Missense_Mutation_p.D527N|SYBU_ENST00000533065.1_Missense_Mutation_p.D408N|SYBU_ENST00000408908.2_Missense_Mutation_p.D527N|SYBU_ENST00000528647.1_Missense_Mutation_p.D526N|SYBU_ENST00000528331.1_Missense_Mutation_p.D408N|SYBU_ENST00000533171.1_Missense_Mutation_p.D527N|SYBU_ENST00000533895.1_Missense_Mutation_p.D526N|SYBU_ENST00000446070.2_Missense_Mutation_p.D526N|SYBU_ENST00000529690.1_Missense_Mutation_p.D397N|SYBU_ENST00000276646.9_Missense_Mutation_p.D527N|SYBU_ENST00000433638.1_Missense_Mutation_p.D527N	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	527						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCCATCGAGTCTGGTTCAGAC	0.557000													23	69					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44585253	44585253	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:44585253G>A	ENST00000421176.3	+	3	317	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AAGCTGTATCGAGATGTCATG	0.532000													27	174					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853645	101853645	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:101853645G>C	ENST00000348070.1	-	21	2631	c.2632C>G	c.(2632-2634)Cca>Gca	p.P878A	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.P865A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	879	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACAGGCTGGCACACACTTC	0.572000													8	99					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35695204	35695204	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:35695204C>G	ENST00000373664.3	-	6	835	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RBL1_ENST00000344359.3_Missense_Mutation_p.D257H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	257					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGAAGTCCATCATGCAGTTCA	0.393000													25	74					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2955833	2955833	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:2955833C>T	ENST00000380520.1	-	2	2231	c.237G>A	c.(235-237)gtG>gtA	p.V79V	SERPINB6_ENST00000335686.5_Silent_p.V79V|SERPINB6_ENST00000380546.3_Silent_p.V79V|SERPINB6_ENST00000380529.1_Silent_p.V79V|SERPINB6_ENST00000380539.1_Silent_p.V79V|SERPINB6_ENST00000380524.1_Silent_p.V79V			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	79					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGTCTTGTTCACTTCGGTGA	0.433000													35	87					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387865	46387865	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:46387865C>T	ENST00000302165.3	-	1	1511	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CCAGCCGCCTCGCCCTCCGGC	0.751000													4	42					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102483277	102483277	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:102483277T>C	ENST00000369138.1	+	14	2637	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	GRIK2_ENST00000413795.1_Missense_Mutation_p.V716A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V667A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V716A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V640A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V716A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	716					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCAGTCAGTGCTGGTCAAA	0.408000													40	145					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268509	21268509	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:21268509C>T	ENST00000602326.1	-	12	1571	c.988G>A	c.(988-990)Gac>Aac	p.D330N	EIF4G3_ENST00000374937.3_Missense_Mutation_p.D330N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D324N|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D324N|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.D324N|EIF4G3_ENST00000356916.3_Missense_Mutation_p.D335N	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	324					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.D324Y(1)|p.D330Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTAAAGGGTCTGATGTTTCT	0.388000													73	186					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236766649	236766649	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:236766649C>G	ENST00000366582.3	-	3	284	c.170G>C	c.(169-171)gGa>gCa	p.G57A	HEATR1_ENST00000366581.2_Missense_Mutation_p.G57A|HEATR1_ENST00000366579.1_Missense_Mutation_p.G57A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	57					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGATCAATTCCAAGCAACTC	0.408000													13	50					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81675142	81675142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:81675142G>A	ENST00000550584.2	-	26	3401	c.3106C>T	c.(3106-3108)Cag>Tag	p.Q1036*	PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q222*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q572*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q1021*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q883*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q1036*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q1015*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q1030*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q1021*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q931*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q935*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	935										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTCTGTACTGAGGTAACCCC	0.388000													14	73					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319265	37319265	+	Missense_Mutation	SNP	G	G	A	rs142974275	byFrequency	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:37319265G>A	ENST00000373091.3	-	8	1179	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	388					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATCAAAATCCGTCCGCAAGCC	0.547000													20	60					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959431	45959431	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr21:45959431G>T	ENST00000400375.1	-	1	647	c.603C>A	c.(601-603)ccC>ccA	p.P201P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	201	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGAGCAGACGGGCACACAGC	0.662000													104	227					2.32228e-54	2.6313e-54	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262083	39262083	+	Missense_Mutation	SNP	A	A	C	rs75392608		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr17:39262083A>C	ENST00000391415.1	+	1	500	c.443A>C	c.(442-444)aAc>aCc	p.N148T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	148	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgccagcccaactgctgccgc	0.667000													4	37					0	0	1	0	0
C20orf141	128653	broad.mit.edu	37	20	2796220	2796220	+	Silent	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:2796220C>A	ENST00000380589.4	+	2	471	c.297C>A	c.(295-297)ctC>ctA	p.L99L	C20orf141_ENST00000603872.1_Silent_p.L99L|TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	99	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCAAACTTCTCACCAGGGGCC	0.612000													5	59					1.23904e-05	1.30401e-05	1	1	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	63					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117617594	117617594	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:117617594G>A	ENST00000369466.4	+	5	432	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAGGTACTTGACAAGAATCA	0.408000													20	67					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26168458	26168458	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr22:26168458C>T	ENST00000335473.7	+	7	2100	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L	MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	617	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGGGCCCTCGGTGCCTTCT	0.642000													24	34					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45986918	45986918	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:45986918C>T	ENST00000257821.4	-	9	1567	c.944G>A	c.(943-945)aGa>aAa	p.R315K	PHF21A_ENST00000323180.6_Missense_Mutation_p.R315K|PHF21A_ENST00000418153.2_Missense_Mutation_p.R314K|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	314					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCCAGCGAGTCTGGTCCCTGG	0.537000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	35					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035857	145035857	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:145035857C>T	ENST00000360771.4	-	6	536	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000535709.1_Missense_Mutation_p.E115K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	141					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTTTCTATTTCAACAGAACTT	0.353000													8	31					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145594124	145594124	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:145594124C>G	ENST00000334163.3	-	14	1598	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	480					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TGTGCTTCCTCTGCACCAGTA	0.443000													30	148					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27327301	27327301	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:27327301A>G	ENST00000404694.3	-	1	304	c.300T>C	c.(298-300)tgT>tgC	p.C100C	CGREF1_ENST00000405600.1_Intron|CGREF1_ENST00000312734.4_Intron|CGREF1_ENST00000402394.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	0	EF-hand 1.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCGTGTCACAGATGGGCT	0.542000													4	16					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr5:38406338G>C	ENST00000322350.5	+	7	1169	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000													4	70					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154163692	154163692	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:154163692C>T	ENST00000368530.2	-	2	405	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TPM3_ENST00000271850.7_Silent_p.K71K	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	70					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCAGTTCCAGCTTCTCCTGGG	0.448000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								76	104					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93839273	93839273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:93839273C>G	ENST00000315765.9	+	17	3030	c.3022C>G	c.(3022-3024)Cat>Gat	p.H1008D		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1008	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATCCATTATCATGCTGAGAG	0.358000													19	56					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859826	43859826	+	RNA	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:43859826G>A	ENST00000378009.4	+	0	435				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CAGGATCCTTGAGGTGCCCAG	0.557000													36	76					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127533	152127533	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152127533G>A	ENST00000316073.3	-	3	2106	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	681	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTACTGCATGATTGCCAGTC	0.532000													44	335					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27755387	27755387	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:27755387G>A	ENST00000430629.2	-	2	229	c.14C>T	c.(13-15)aCg>aTg	p.T5M	WASF2_ENST00000536657.1_Missense_Mutation_p.T5M	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	5					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	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)		GATGTTCCTCGTTACTAACGG	0.473000													15	62					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153652193	153652193	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153652193G>T	ENST00000368680.3	+	1	1081	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	203					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGAGGGGCTGTTCATGCGGG	0.667000													4	24					0.00909568	0.00932805	1	1	0
CADPS	8618	broad.mit.edu	37	3	62860633	62860633	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:62860633G>A	ENST00000383710.4	-	1	421	c.72C>T	c.(70-72)ctC>ctT	p.L24L	CADPS_ENST00000490353.2_Silent_p.L24L|CADPS_ENST00000283269.9_Silent_p.L24L|CADPS_ENST00000357948.3_Silent_p.L24L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	24					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGCCGAGCCGAGCACCTCCT	0.741000													6	12					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841921	208841921	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr2:208841921T>C	ENST00000457206.1	-	3	1427	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T334A|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.T334A			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	334					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATTCTGTGTATAGTCATCA	0.517000													13	105					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:44664045C>G	ENST00000222673.5	+	2	145	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E	OGDH_ENST00000449767.1_Missense_Mutation_p.Q35E|OGDH_ENST00000444676.1_Missense_Mutation_p.Q35E|OGDH_ENST00000443864.2_Missense_Mutation_p.Q35E|OGDH_ENST00000439616.2_Missense_Mutation_p.Q35E|OGDH_ENST00000447398.1_Missense_Mutation_p.Q35E	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468000													87	161					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153653103	153653103	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:153653103G>T	ENST00000368680.3	+	2	1320	c.848G>T	c.(847-849)gGa>gTa	p.G283V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	283					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCAAGGTGGACAGGGCCCT	0.612000													6	81					0.248553	0.248553	1	1	0
MIR1323	100302255	broad.mit.edu	37	19	54175252	54175252	+	RNA	SNP	C	C	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:54175252C>A	ENST00000408090.1	+	0	31					NR_031568.1																						GGGGCATTTTCTGTGGTTTGA	0.483000													5	81					0.014758	0.0150253	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268705	65268705	+	RNA	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:65268705G>T	ENST00000534336.1	+	0	3473					NR_002819.2																						ATTTTTTTTTGTGGGGGTGGG	0.393000													7	33					1.12685e-05	1.19039e-05	1	1	0
FLNA	2316	broad.mit.edu	37	X	153588592	153588592	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chrX:153588592C>G	ENST00000422373.1	-	22	3819	c.3571G>C	c.(3571-3573)Gcg>Ccg	p.A1191P	FLNA_ENST00000360319.4_Missense_Mutation_p.A1191P|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191P|FLNA_ENST00000369850.3_Missense_Mutation_p.A1191P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCAGCTCCGCGCTGCCCGCG	0.642000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	66					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568298	7568298	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:7568298C>T	ENST00000340209.4	+	2	489	c.192C>T	c.(190-192)ccC>ccT	p.P64P	RBFOX1_ENST00000355637.4_Silent_p.P79P|RBFOX1_ENST00000547372.1_Silent_p.P102P|RBFOX1_ENST00000436368.2_Silent_p.P79P|RBFOX1_ENST00000422070.4_Silent_p.P102P|RBFOX1_ENST00000311745.5_Silent_p.P79P|RBFOX1_ENST00000547338.1_Silent_p.P59P|RBFOX1_ENST00000550418.1_Silent_p.P59P|RBFOX1_ENST00000552089.1_Silent_p.P95P|RBFOX1_ENST00000553186.1_Silent_p.P59P|RBFOX1_ENST00000535565.2_Silent_p.P95P			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	59					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCACGGTTCCCGAGCACACAT	0.657000													57	171					0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174253275	174253275	+	Missense_Mutation	SNP	C	C	T	rs17849374		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:174253275C>T	ENST00000296503.5	-	5	1459	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	HMGB2_ENST00000438704.2_Missense_Mutation_p.E196K|HMGB2_ENST00000446922.2_Missense_Mutation_p.E196K			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		tcatcttcttcttcctcctcc	0.468000													16	66					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200119	128200119	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr3:128200119G>A	ENST00000341105.2	-	6	1517	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.R396W|GATA2_ENST00000430265.2_Missense_Mutation_p.R382W	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	396					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TTCCGGTTCCGAGTCTGGATC	0.537000			Mis		AML(CML blast transformation)								21	107					0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71067186	71067186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr4:71067186C>T	ENST00000396094.2	+	7	592	c.544C>T	c.(544-546)Caa>Taa	p.Q182*		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	182	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						ATTCTATGCTCAATTTGGATA	0.259000													6	16					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234288	155234288	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:155234288C>G	ENST00000368361.4	-	10	1432	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q	CLK2_ENST00000361168.5_Missense_Mutation_p.E372Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E373Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.E371Q			P49760	CLK2_HUMAN	CDC-like kinase 2	373	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATAGTATTCAAAGATGATG	0.493000								Other conserved DNA damage response genes					12	58					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599891	29599891	+	Silent	SNP	A	A	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr13:29599891A>G	ENST00000431530.3	+	1	1144	c.1086A>G	c.(1084-1086)gcA>gcG	p.A362A		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	352						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GTGGGGAAGCACACCCGGAAG	0.567000													6	77					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17127619	17127619	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:17127619T>C	ENST00000377833.4	-	16	2152	c.2087A>G	c.(2086-2088)cAt>cGt	p.H696R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	696	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTAGGTGATATGGAAGCCTTG	0.443000													16	144					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423591	35423591	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:35423591C>T	ENST00000229769.2	+	2	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	106					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GATGGCCGTTCGGCCATCGCT	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	108					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418703	20418703	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:20418703C>T	ENST00000222573.4	+	4	1102	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.H5Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCTGAAAGTTCATCCTCTGAA	0.303000													13	68					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140627	3140627	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:3140627C>T	ENST00000252463.2	-	5	730	c.643G>A	c.(643-645)Gac>Aac	p.D215N	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.D133N|ZSCAN10_ENST00000572548.1_3'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	215					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TCCTCCTTGTCTGGGGTTCTG	0.557000													10	47					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129107265	129107265	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:129107265C>G	ENST00000249344.2	+	17	1891	c.1851C>G	c.(1849-1851)atC>atG	p.I617M	STRIP2_ENST00000435494.2_Missense_Mutation_p.I617M	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ATCAAAATATCTTGTCATACA	0.383000													9	31					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566481	56566481	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr12:56566481G>A	ENST00000394023.3	-	19	1856	c.1751C>T	c.(1750-1752)tCt>tTt	p.S584F	SMARCC2_ENST00000347471.4_Missense_Mutation_p.S584F|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.S553F|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S584F	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	553					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGGGAAGCAGAGGTCTGCTA	0.463000													36	106					0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30393431	30393431	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr16:30393431T>C	ENST00000321367.3	-	4	350	c.305A>G	c.(304-306)cAg>cGg	p.Q102R	SEPT1_ENST00000605106.1_Missense_Mutation_p.Q60R|SEPT1_ENST00000571393.1_Missense_Mutation_p.Q55R	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	55					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTCTGGCACCTGGCGATCCTC	0.587000													6	10					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4162527	4162527	+	Silent	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr20:4162527C>T	ENST00000305958.4	+	4	738	c.513C>T	c.(511-513)ttC>ttT	p.F171F	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Silent_p.F171F|SMOX_ENST00000339123.6_Silent_p.F171F|SMOX_ENST00000379460.2_Silent_p.F171F|SMOX_ENST00000484515.1_3'UTR	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	171					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	TGGGGGTGTTCACCCGAGAGG	0.542000													22	116					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290715	74290715	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr15:74290715C>G	ENST00000565898.1	+	2	584	c.500C>G	c.(499-501)gCa>gGa	p.A167G	PML_ENST00000569965.1_Missense_Mutation_p.A167G|PML_ENST00000268058.3_Missense_Mutation_p.A167G|PML_ENST00000569477.1_Missense_Mutation_p.A167G|PML_ENST00000564428.1_Missense_Mutation_p.A167G|PML_ENST00000395132.2_Missense_Mutation_p.A167G|PML_ENST00000563500.1_Missense_Mutation_p.A167G|PML_ENST00000268059.6_Missense_Mutation_p.A167G|PML_ENST00000435786.2_Missense_Mutation_p.A167G|PML_ENST00000436891.3_Missense_Mutation_p.A167G|PML_ENST00000567543.1_Missense_Mutation_p.A167G|PML_ENST00000395135.3_Missense_Mutation_p.A167G|PML_ENST00000354026.6_Missense_Mutation_p.A167G|PML_ENST00000359928.4_Missense_Mutation_p.A167G			P29590	PML_HUMAN	promyelocytic leukemia	167					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGGCCCCTAGCAGAGCTGCGC	0.632000			T	"""RARA, PAX5"""	"""APL, ALL"""								8	55					0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46375759	46375759	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:46375759C>T	ENST00000302177.2	+	2	693	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	166					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GAACTCCATTCGCCACTCGCT	0.587000													36	121					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747380	62747380	+	Silent	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr11:62747380G>A	ENST00000377871.3	-	7	1344	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	SLC22A6_ENST00000360421.4_Silent_p.L360L|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.L360L|SLC22A6_ENST00000458333.2_Silent_p.L360L	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	360					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAGCCCTGCAGGTCCATGACC	0.517000													17	65					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39678687	39678687	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr8:39678687C>G	ENST00000265708.4	-	6	450	c.347G>C	c.(346-348)gGc>gCc	p.G116A	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.G116A|ADAM2_ENST00000347580.4_Missense_Mutation_p.G116A|ADAM2_ENST00000521880.1_Missense_Mutation_p.G116A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	116					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTAGTACGCCCCTAAAAAT	0.313000													5	2					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593069	7593069	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:7593069G>A	ENST00000264079.6	+	7	928	c.803G>A	c.(802-804)aGt>aAt	p.S268N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	268					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAAGCACACAGTGGGCGGATC	0.617000													37	123					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152130234	152130234	+	Silent	SNP	G	G	T			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:152130234G>T	ENST00000316073.3	-	2	196	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	44	EF-hand 1.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTACCTGGAGGATGTCTCCAA	0.463000													13	71					6.72482e-11	7.41049e-11	1	1	0
EMC1	23065	broad.mit.edu	37	1	19547319	19547319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr1:19547319delG	ENST00000477853.1	-	21	2653	c.2611delC	c.(2611-2613)cttfs	p.L871fs	EMC1_ENST00000375208.3_Frame_Shift_Del_p.L849fs|EMC1_ENST00000375199.3_Frame_Shift_Del_p.L870fs|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GGAAGGGAAAGAATTGCTCCA	0.512													23	59	---	---	---	---					
MXD3	83463	broad.mit.edu	37	5	176738408	176738408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr5:176738408delG	ENST00000427908.2	-	2	215	c.148delC	c.(148-150)cagfs	p.Q50fs	MXD3_ENST00000439742.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000423571.2_Frame_Shift_Del_p.Q50fs|MXD3_ENST00000513063.1_Frame_Shift_Del_p.Q50fs	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGAGCCTGGGGGGGTCGC	0.746													2	4	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	6	---	---	---	---					
C5	727	broad.mit.edu	37	9	123742477	123742477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr9:123742477delG	ENST00000223642.1	-	28	3571	c.3542delC	c.(3541-3543)ccafs	p.P1181fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1181					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GCTCTGGGCTGGCAGTGTATT	0.418													15	72	---	---	---	---					
HMX3	340784	broad.mit.edu	37	10	124895642	124895642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr10:124895642delC	ENST00000357878.5	+	1	165	c.76delC	c.(76-78)cccfs	p.P26fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	26	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCCACCCGCTCCCAAGGAGTC	0.746													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48951092	48951093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr13:48951092_48951093insG	ENST00000267163.4	+	13	1392_1393	c.1254_1255insG	c.(1255-1257)gtgfs	p.V419fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	419	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGAAAAGAGTGAAGGATAT	0.342		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			33	45	---	---	---	---					
SOGA2	23255	broad.mit.edu	37	18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	980																	AGCTCAGGGGCCCCCCCGTTT	0.552													7	455	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													2	4	---	---	---	---					
ZNF85	7639	broad.mit.edu	37	19	21131995	21131995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr19:21131995delG	ENST00000601023.1	+	2	1144	c.498delG	c.(496-498)acgfs	p.T166fs	ZNF85_ENST00000328178.8_Frame_Shift_Del_p.T225fs|ZNF85_ENST00000345030.6_Frame_Shift_Del_p.T192fs			Q03923	ZNF85_HUMAN	zinc finger protein 85	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAATTCATACGGGAGAGAAAC	0.348													21	51	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													8	2	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33044299	33044310	+	In_Frame_Del	DEL	GCTGTGGCTGCT	GCTGTGGCTGCT	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	24fce45b-11cf-4981-822b-e78dd3e8d746	g.chr21:33044299_33044310delGCTGTGGCTGCT	ENST00000286835.7	-	20	3228_3239	c.2846_2857delAGCAGCCACAGC	c.(2845-2859)cagcagccacagccg>ccg	p.QQPQ949del	SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del|SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	949						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ggcgcctgcggctgtggctgctgctgtggctg	0.651													21	93	---	---	---	---					
EMC1	23065	broad.mit.edu	37	1	19547319	19547319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:19547319delG	ENST00000477853.1	-	21	2653	c.2611delC	c.(2611-2613)cttfs	p.L871fs	EMC1_ENST00000375208.3_Frame_Shift_Del_p.L849fs|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Frame_Shift_Del_p.L870fs	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GGAAGGGAAAGAATTGCTCCA	0.512													23	59	---	---	---	---					
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342	by1000genomes	TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601													7	232	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	6	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													2	4	---	---	---	---					
HMX3	340784	broad.mit.edu	37	10	124895642	124895642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr10:124895642delC	ENST00000357878.5	+	1	165	c.76delC	c.(76-78)cccfs	p.P26fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	26	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCCACCCGCTCCCAAGGAGTC	0.746													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48951092	48951093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr13:48951092_48951093insG	ENST00000267163.4	+	13	1392_1393	c.1254_1255insG	c.(1255-1257)gtgfs	p.V419fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	419	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACTGAAAAGAGTGAAGGATAT	0.342		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			33	45	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCGAGGTGGagcagcagcagca	0.744													2	4	---	---	---	---					
ZNF85	7639	broad.mit.edu	37	19	21131995	21131995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr19:21131995delG	ENST00000601023.1	+	2	1144	c.498delG	c.(496-498)acgfs	p.T166fs	ZNF85_ENST00000345030.6_Frame_Shift_Del_p.T192fs|ZNF85_ENST00000328178.8_Frame_Shift_Del_p.T225fs			Q03923	ZNF85_HUMAN	zinc finger protein 85	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAATTCATACGGGAGAGAAAC	0.348													21	51	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33044299	33044310	+	In_Frame_Del	DEL	GCTGTGGCTGCT	GCTGTGGCTGCT	-			TCGA-K4-A5RH-01A-11D-A30E-08	TCGA-K4-A5RH-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd02ab5c-4637-4b84-a511-003778534ca5	482e3c36-59b1-4d04-85f7-74000b54e327	g.chr21:33044299_33044310delGCTGTGGCTGCT	ENST00000286835.7	-	20	3228_3239	c.2846_2857delAGCAGCCACAGC	c.(2845-2859)cagcagccacagccg>ccg	p.QQPQ949del	SCAF4_ENST00000399804.1_In_Frame_Del_p.QQPQ927del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QQPQ934del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	949						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ggcgcctgcggctgtggctgctgctgtggctg	0.651													21	93	---	---	---	---					
