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
NABP1	64859	broad.mit.edu	37	2	192543841	192543841	+	Missense_Mutation	SNP	C	C	T	rs138402221		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:192543841C>T	ENST00000425611.2	+	2	300	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	NABP1_ENST00000409510.1_5'UTR|NABP1_ENST00000410026.1_5'UTR					nucleic acid binding protein 1																		GGATATTATTCGGTTGACCAG	0.522000													14	68					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774660	140774660	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140774660C>T	ENST00000398604.2	+	1	2280	c.2280C>T	c.(2278-2280)acC>acT	p.T760T	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCTCACCGCCGACTCGC	0.527000													24	66					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15811037	15811037	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:15811037G>A	ENST00000281172.5	-	12	1513	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	EPS8_ENST00000540613.1_Silent_p.H99H|EPS8_ENST00000543612.1_Silent_p.H359H|EPS8_ENST00000542903.1_Silent_p.H99H|EPS8_ENST00000543523.1_Silent_p.H359H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	359					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TAAACAAAAAGTGAACCAAAT	0.338000													8	27					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865760	140865760	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:140865760G>T	ENST00000306593.1	+	1	1020	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTGGATCTGCTGGACGTAA	0.527000													26	49					1.64293e-13	1.82734e-13	1	1	0
FRG1BP	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													3	29					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	675						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483000													49	54					2.43277e-16	2.79128e-16	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31088477	31088477	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr16:31088477C>T	ENST00000394979.2	+	1	1255	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	ZNF646_ENST00000300850.5_Missense_Mutation_p.L278F			O15015	ZN646_HUMAN	zinc finger protein 646	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GTTCTCTAACCTCATGGCTCT	0.612000													20	53					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912063	139912063	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:139912063C>T	ENST00000265662.5	-	17	2440	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	ABCA2_ENST00000341511.6_Missense_Mutation_p.V765M|ABCA2_ENST00000371605.3_Missense_Mutation_p.V764M			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	764					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTGCTGTCACGGAGATGGAC	0.617000													13	61					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52946083	52946083	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:52946083C>T	ENST00000295213.4	+	9	1727	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	SPATA18_ENST00000419395.2_Silent_p.C419C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	451					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTAATGATTGCAAGTAAGAGA	0.403000													25	105					0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51173961	51173961	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:51173961G>C	ENST00000262053.3	+	2	55	c.33G>C	c.(31-33)gaG>gaC	p.E11D	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	11					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						CCACGTCAGAGACAGCACCTC	0.408000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								27	109					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	29					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31142517	31142517	+	Silent	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31142517A>T	ENST00000458591.2	+	12	1277	c.1050A>T	c.(1048-1050)gcA>gcT	p.A350A	SCFD1_ENST00000396629.2_Silent_p.A258A|SCFD1_ENST00000544052.2_Silent_p.A283A|SCFD1_ENST00000421551.3_Silent_p.A291A|SCFD1_ENST00000541123.1_Silent_p.A165A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	350					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTTACAGAGCACAGGAAGATG	0.358000													4	33					0	0	1	0	0
SFN	2810	broad.mit.edu	37	1	27190210	27190210	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:27190210C>T	ENST00000339276.4	+	1	578	c.507C>T	c.(505-507)cgC>cgT	p.R169R		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	169					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		ACCCCATCCGCCTGGGCCTGG	0.612000													58	119					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294964	55294964	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:55294964G>T	ENST00000336077.6	+	7	884	c.844G>T	c.(844-846)Gca>Tca	p.A282S	KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A308S|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A282S|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	282					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCAAGAGTCTGCAGGAAACAG	0.512000													32	142					1.836e-18	2.12898e-18	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72509715	72509715	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:72509715C>G	ENST00000373208.1	+	16	2410	c.2410C>G	c.(2410-2412)Ccc>Gcc	p.P804A	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P801A	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	801	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GACCAGCGGGCCCCTGCCTGA	0.642000													10	138					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7578392C>T	ENST00000420246.2	-	5	670	c.538G>A	c.(538-540)Gag>Aag	p.E180K	TP53_ENST00000455263.2_Missense_Mutation_p.E180K|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.E180K|TP53_ENST00000413465.2_Missense_Mutation_p.E180K|TP53_ENST00000445888.2_Missense_Mutation_p.E180K|TP53_ENST00000359597.4_Missense_Mutation_p.E180K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(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)		GAGCAGCGCTCATGGTGGGGG	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	63					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	57					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112318262	112318262	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:112318262G>A	ENST00000550735.2	+	8	1347	c.591G>A	c.(589-591)gcG>gcA	p.A197A	MAPKAPK5_ENST00000551404.2_Silent_p.A197A	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	197	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TACTGGAGGCGCAAAGAAGGC	0.463000													4	120					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44890920	44890920	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr15:44890920C>A	ENST00000261866.7	-	22	3817	c.3801G>T	c.(3799-3801)aaG>aaT	p.K1267N	SPG11_ENST00000427534.2_Missense_Mutation_p.K1267N|SPG11_ENST00000535302.2_Missense_Mutation_p.K1267N|SPG11_ENST00000558319.1_Missense_Mutation_p.K1267N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1267					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAACTCTGAGCTTGAGGCTGT	0.428000													7	69					0.27861	0.27861	1	1	0
MUC2	4583	broad.mit.edu	37	11	1075751	1075751	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:1075751C>T	ENST00000441003.2	+	2	204	c.177C>T	c.(175-177)tgC>tgT	p.C59C	MUC2_ENST00000359061.5_Silent_p.C59C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	59	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGGCCTCTGCGACTACAACT	0.647000													7	29					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863359	4863359	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:4863359C>G	ENST00000573366.1	-	5	1080	c.222G>C	c.(220-222)gaG>gaC	p.E74D	SPAG7_ENST00000206020.3_Missense_Mutation_p.E125D|SPAG7_ENST00000575142.1_Missense_Mutation_p.E114D			O75391	SPAG7_HUMAN	sperm associated antigen 7	125	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGTCCCATTCCTCTCCACGAC	0.542000													11	191					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869062	22869062	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr22:22869062A>C	ENST00000302097.3	-	2	1145	c.893T>G	c.(892-894)tTt>tGt	p.F298C		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GAGGCATTTAAAGGTGGTGTG	0.403000													45	93					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876313	139876313	+	Silent	SNP	A	A	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:139876313A>G	ENST00000297183.6	+	15	2578	c.2454A>G	c.(2452-2454)gaA>gaG	p.E818E	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.E818E|ANKHD1_ENST00000360839.2_Silent_p.E818E|ANKHD1_ENST00000462121.1_3'UTR	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGATAGAAGAACTTAAAA	0.378000													31	65					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190203	66190203	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:66190203C>T	ENST00000311034.2	+	4	665	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	163					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGAGTGCAGGCAACAAACTCG	0.552000													29	103					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47604842	47604842	+	Splice_Site	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:47604842C>A	ENST00000371917.4	+	17	2278	c.2276_splice	c.e17-1	p.Q760_splice		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	760	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTCTCCAGGCAAACTCTGTT	0.418000													11	32					0.010729	0.0110327	1	1	0
TRAF6	7189	broad.mit.edu	37	11	36514153	36514153	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:36514153C>A	ENST00000526995.1	-	6	950	c.704G>T	c.(703-705)tGc>tTc	p.C235F	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.C235F	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	235	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGCTGTAGGGCAGTCTAGATC	0.323000													24	99					8.24728e-16	9.3641e-16	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769409	31769409	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:31769409G>A	ENST00000240587.4	-	2	1617	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	430					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)					TGGTAGGTGTGACAGGCGTCT	0.582000													40	132					0	0	1	0	0
IGLV3-32	28787	broad.mit.edu	37	22	22937477	22937477	+	RNA	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr22:22937477G>A	ENST00000390303.2	+	0	334																											CCAGGCTGAGGATGAGGCTGA	0.498000													13	37					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740535	62740535	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:62740535G>A	ENST00000371153.4	-	3	619	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	81										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCAGGGGGGCGAGCCCCACTG	0.567000													92	86					0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201286835	201286835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:201286835C>T	ENST00000263946.3	+	5	1233	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Nonsense_Mutation_p.Q328*|PKP1_ENST00000367324.3_Nonsense_Mutation_p.Q328*	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	328					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GACCCGGAGGCAGAATGGGAT	0.657000													20	40					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54429249	54429249	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:54429249T>A	ENST00000334206.5	-	6	864	c.688A>T	c.(688-690)Aat>Tat	p.N230Y	CDC20B_ENST00000381375.2_Missense_Mutation_p.N230Y|CDC20B_ENST00000296733.1_Missense_Mutation_p.N230Y|CDC20B_ENST00000322374.6_Missense_Mutation_p.N230Y			Q86Y33	CD20B_HUMAN	cell division cycle 20B	230										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGTAGTCATTTCGAAGACCA	0.343000													17	50					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43236961	43236961	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:43236961A>T	ENST00000327495.5	-	3	868	c.684T>A	c.(682-684)agT>agA	p.S228R	PSG3_ENST00000595140.1_Missense_Mutation_p.S228R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	228	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGACTGGGTCACTGCGGCTGG	0.522000													137	450					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31177218	31177218	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:31177218A>T	ENST00000458591.2	+	19	1803	c.1576A>T	c.(1576-1578)Aca>Tca	p.T526S	SCFD1_ENST00000396629.2_Missense_Mutation_p.T434S|SCFD1_ENST00000544052.2_Missense_Mutation_p.T459S|SCFD1_ENST00000421551.3_Missense_Mutation_p.T467S|SCFD1_ENST00000541123.1_Missense_Mutation_p.T341S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	526					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGTCATGAATACAGGATCACA	0.363000													4	93					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40432973	40432973	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:40432973G>A	ENST00000221347.6	-	2	1303	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	432	IgGFc-binding.					extracellular region	protein binding	p.C432C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TACTCCGGCCGCAATCAGCAG	0.582000													26	59					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83748144	83748144	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:83748144C>G	ENST00000369747.3	-	5	780	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	220						cytoplasm	ligase activity										CCTGATGACACGGTCTCTCCC	0.333000													18	58					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976680	38976680	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:38976680G>A	ENST00000355481.4	+	34	5516	c.5385G>A	c.(5383-5385)ccG>ccA	p.P1795P	RYR1_ENST00000360985.3_Silent_p.P1795P|RYR1_ENST00000359596.3_Silent_p.P1795P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1795	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGAGGCCCCGGCCCGCCTCA	0.716000													19	63					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947945	40947945	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:40947945G>C	ENST00000246914.5	+	16	3346	c.3325G>C	c.(3325-3327)Gtg>Ctg	p.V1109L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1109					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCCAGCCCAGTGTGGATGAA	0.592000													24	66					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639224	32639224	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr21:32639224C>T	ENST00000286827.3	-	5	536	c.65G>A	c.(64-66)gGg>gAg	p.G22E	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G22E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	22					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCTTGCGCCCCAGGCTGGC	0.582000													19	34					0	0	1	0	0
PATE1	160065	broad.mit.edu	37	11	125616580	125616580	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:125616580G>T	ENST00000305738.5	+	2	89	c.77G>T	c.(76-78)aGa>aTa	p.R26I	PATE1_ENST00000437148.2_Missense_Mutation_p.R26I	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	26						extracellular region				large_intestine(1)|lung(5)	6						CTTTCAATGAGAAATGATGCA	0.433000													5	69					0.014758	0.0150338	1	1	0
ZNF491	126069	broad.mit.edu	37	19	11917304	11917304	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:11917304G>T	ENST00000323169.5	+	3	867	c.536G>T	c.(535-537)aGa>aTa	p.R179I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATCCATGAAAGAACTCACACT	0.428000													18	62					2.35188e-11	2.56355e-11	1	1	0
EP400	57634	broad.mit.edu	37	12	132490668	132490668	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:132490668T>C	ENST00000333577.4	+	15	3164	c.3055T>C	c.(3055-3057)Tgt>Cgt	p.C1019R	EP400_ENST00000389561.2_Missense_Mutation_p.C983R|EP400_ENST00000330386.6_Missense_Mutation_p.C983R|EP400_ENST00000332482.4_Missense_Mutation_p.C946R|EP400_ENST00000389562.2_Missense_Mutation_p.C982R			Q96L91	EP400_HUMAN	E1A binding protein p400	1019	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCAGATGACTGTCCAGGCGA	0.433000													14	38					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602505	5602505	+	Silent	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:5602505C>A	ENST00000345043.2	+	1	399	c.399C>A	c.(397-399)gtC>gtA	p.V133V	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCTGCTGTCCTGCTGGCCA	0.522000													28	90					1.42536e-11	1.56933e-11	1	1	0
SPRED2	200734	broad.mit.edu	37	2	65571949	65571949	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:65571949G>A	ENST00000356388.4	-	2	297	c.108C>T	c.(106-108)ggC>ggT	p.G36G	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.G33G	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	36	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GACTGATCCCGCCTCCTTCCT	0.527000													8	41					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537000													31	99					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521587	125521587	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:125521587A>T	ENST00000431078.1	+	16	2757	c.2393A>T	c.(2392-2394)gAa>gTa	p.E798V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	798	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTTATACAGAAGCCTCTTAC	0.423000													21	59					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672000													4	100					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838716	3838716	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:3838716T>A	ENST00000278243.4	+	3	500	c.299T>A	c.(298-300)aTc>aAc	p.I100N	PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.I100N|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000465307.2_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	100					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TTCTGCATCATCTGGTCCCTG	0.602000													23	50					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75347713	75347713	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:75347713T>G	ENST00000305249.4	-	2	1336	c.571A>C	c.(571-573)Att>Ctt	p.I191L	TACR1_ENST00000409848.3_Missense_Mutation_p.I191L|TACR1_ENST00000497764.1_5'UTR	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TTCTCATAAATCTTGTTCGGA	0.522000													37	42					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149396	139149396	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:139149396G>A	ENST00000395297.1	-	19	4179	c.4009C>T	c.(4009-4011)Cac>Tac	p.H1337Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1337										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTGTGTGTCTGTCTTTG	0.403000										HNSCC(54;0.14)			14	104					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	324					0.000157383	0.000163379	1	1	0
CCDC88B	283234	broad.mit.edu	37	11	64111483	64111483	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr11:64111483G>C	ENST00000356786.5	+	14	1514	c.1470G>C	c.(1468-1470)gaG>gaC	p.E490D	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	490					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCTGCTGGAGGCACCGAGAG	0.662000													6	30					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818961	159818961	+	RNA	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:159818961C>T	ENST00000497452.1	-	0	517																											TCCAGTGTCACGCCCCTGTGA	0.483000													19	114					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60045413	60045413	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:60045413G>A	ENST00000397786.2	-	18	4250	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1392					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTGCAGTAAGATCTCTAAAA	0.348000													21	56					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782239	44782239	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:44782239C>A	ENST00000266534.3	+	8	1456	c.1329C>A	c.(1327-1329)agC>agA	p.S443R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.S339R|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	443						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAGAACATAGCAAAGACATGG	0.413000													23	80					2.98393e-07	3.18871e-07	1	1	0
MECOM	2122	broad.mit.edu	37	3	168833867	168833867	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:168833867C>T	ENST00000464456.1	-	7	2429	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	MECOM_ENST00000433243.2_Missense_Mutation_p.G411D|MECOM_ENST00000494292.1_Missense_Mutation_p.G598D|MECOM_ENST00000460814.1_Missense_Mutation_p.G410D|MECOM_ENST00000472280.1_Missense_Mutation_p.G411D|MECOM_ENST00000392736.3_Missense_Mutation_p.G410D|MECOM_ENST00000468789.1_Missense_Mutation_p.G410D|MECOM_ENST00000264674.3_Missense_Mutation_p.G475D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGATCAGAGCCCGAGGTTGT	0.418000													9	48					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9360008	9360008	+	Silent	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:9360008C>G	ENST00000262120.5	+	3	353	c.162C>G	c.(160-162)tcC>tcG	p.S54S	TWSG1_ENST00000581641.1_Silent_p.S54S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	54	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GCAATTGCTCCTGCTGTAAGG	0.438000													78	58					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42599578	42599578	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:42599578C>T	ENST00000389341.5	-	11	1009	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	POU2F2_ENST00000529952.1_Missense_Mutation_p.A331T|POU2F2_ENST00000560558.1_Missense_Mutation_p.A276T|POU2F2_ENST00000560398.1_Missense_Mutation_p.A337T|POU2F2_ENST00000533720.1_Missense_Mutation_p.A315T|POU2F2_ENST00000529067.1_Missense_Mutation_p.A315T|POU2F2_ENST00000526816.2_Missense_Mutation_p.A331T|POU2F2_ENST00000342301.4_Missense_Mutation_p.A331T	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	331					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCTGCTCGGCGATCAGCAGG	0.647000													23	51					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241752	1241752	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:1241752C>T	ENST00000308624.5	+	10	941	c.812C>T	c.(811-813)gCg>gTg	p.A271V	SNTG2_ENST00000407292.1_Missense_Mutation_p.A144V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	271					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGCTGCGGGCGGTCTCAGCC	0.572000													5	22					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27806004	27806004	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:27806004G>A	ENST00000330180.2	-	1	113	c.114C>T	c.(112-114)ggC>ggT	p.G38G		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	38					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAGCGTAGTTGCCCTTGCGGA	0.667000													23	69					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417786	25417786	+	RNA	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr15:25417786C>A	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							CGGGTTGGGTCGATGATGAGA	0.522000													46	168					1.5731e-28	1.86378e-28	1	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148747932	148747932	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:148747932G>A	ENST00000514349.1	+	5	1509	c.930G>A	c.(928-930)aaG>aaA	p.K310K	PCYOX1L_ENST00000274569.4_Silent_p.K400K			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	400					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCCCCAAGCCCCTCTTTC	0.602000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	161					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169267911	169267911	+	Silent	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:169267911T>C	ENST00000367811.3	-	6	787	c.531A>G	c.(529-531)ggA>ggG	p.G177G	NME7_ENST00000472647.1_Silent_p.G141G|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	177					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTTGCAGGTCCCAGCAGTC	0.438000													18	40					0	0	1	0	0
GLTSCR2-AS1	106144593	broad.mit.edu	37	19	48260396	48260396	+	RNA	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:48260396G>A	ENST00000602048.1	-	0	436																											CCCCCGTGGCGCACAAGCATG	0.607000													3	28					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89130998	89130998	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr8:89130998A>G	ENST00000286614.6	-	5	1083	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	268					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATGTACTGGTAAAATGGAGCC	0.413000													28	50					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45688354	45688354	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:45688354A>T	ENST00000297323.7	+	5	1128	c.1106A>T	c.(1105-1107)cAc>cTc	p.H369L	ADCY1_ENST00000432715.1_Missense_Mutation_p.H144L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	369					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GACCATGCCCACTGCTGTGTG	0.567000													18	57					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34671814	34671814	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:34671814G>A	ENST00000374789.3	-	9	1378	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	PARD3_ENST00000350537.4_Silent_p.P351P|PARD3_ENST00000374794.3_Silent_p.P307P|PARD3_ENST00000545260.1_Silent_p.P307P|PARD3_ENST00000545693.1_Silent_p.P351P|PARD3_ENST00000346874.4_Silent_p.P351P|PARD3_ENST00000374773.1_Silent_p.P351P|PARD3_ENST00000374788.3_Silent_p.P351P|PARD3_ENST00000340077.5_Silent_p.P351P|PARD3_ENST00000544292.1_Silent_p.P81P|PARD3_ENST00000374776.1_Silent_p.P351P|PARD3_ENST00000374790.3_Silent_p.P307P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	351	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACCAAATGATGGGTGTACGCA	0.403000													4	181					0	0	1	0	0
HIST1H3A	8350	broad.mit.edu	37	6	26021038	26021038	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr6:26021038C>T	ENST00000357647.3	+	1	321	c.321C>T	c.(319-321)gaC>gaT	p.D107D		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	107					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATTTGAGGACACTAACCTGT	0.587000													20	52					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134611	32134611	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:32134611C>T	ENST00000312561.4	+	4	1136	c.722C>T	c.(721-723)tCa>tTa	p.S241L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CCACATACATCATTGCAAGTT	0.388000													10	70					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	42					0	0	1	0	0
NEURL2	140825	broad.mit.edu	37	20	44518946	44518946	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:44518946C>A	ENST00000372518.4	-	1	980	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	229	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACGTCCACCACCGCGTAGAGG	0.667000											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	59					7.93312e-07	8.39524e-07	1	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6890051	6890051	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:6890051C>T	ENST00000419673.2	+	12	1441	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	ARHGAP28_ENST00000418986.1_Silent_p.R408R|ARHGAP28_ENST00000383472.4_Silent_p.R567R|ARHGAP28_ENST00000400091.2_Silent_p.R567R|ARHGAP28_ENST00000314319.3_Silent_p.R408R|ARHGAP28_ENST00000531294.1_Silent_p.R403R|ARHGAP28_ENST00000532996.1_Silent_p.R390R|ARHGAP28_ENST00000262227.3_Silent_p.R515R	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	390					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACATCATCCGCCTAATGCTTA	0.443000													75	189					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150377894	150377894	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:150377894C>T	ENST00000295910.6	-	14	1829	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	FAM194A_ENST00000491361.1_Missense_Mutation_p.D447N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	593										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGAAGAAGGTCATCTCCACTT	0.433000													36	92					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	67					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174828561	174828561	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:174828561T>C	ENST00000310015.6	-	3	737	c.207A>G	c.(205-207)atA>atG	p.I69M	SP3_ENST00000455789.2_Intron|SP3_ENST00000418194.2_Missense_Mutation_p.I1M	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	69	Ala-rich.			I -> M (in Ref. 2; AAR30505).	negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ATGGCGGCCCTATCTTGCTGC	0.766000													6	14					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927382	43927382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:43927382C>T	ENST00000282406.4	+	8	1395	c.1285C>T	c.(1285-1287)Caa>Taa	p.Q429*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	429						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAAGGAACACAATTAGTGCC	0.448000													38	105					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916587	97916587	+	RNA	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:97916587C>T	ENST00000534948.1	+	0	1365							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACAACACAGACGAACCCATAG	0.358000													21	203					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544076	63544076	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:63544076G>T	ENST00000299178.2	-	1	646	c.541C>A	c.(541-543)Ctg>Atg	p.L181M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	181					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCGTGCTCAGCACGAAGCTC	0.652000													26	100					6.12954e-19	7.18408e-19	1	1	0
MTTP	4547	broad.mit.edu	37	4	100542372	100542372	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr4:100542372G>A	ENST00000457717.1	+	18	2753	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N	MTTP_ENST00000511045.1_Missense_Mutation_p.D860N|MTTP_ENST00000265517.5_Missense_Mutation_p.D833N|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	833					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATGGACAAGGATGAAGCTCC	0.468000													47	102					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005785	74005785	+	Silent	SNP	C	C	T	rs140332207		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:74005785C>T	ENST00000301607.3	-	22	3754	c.3501G>A	c.(3499-3501)gcG>gcA	p.A1167A	EVPL_ENST00000586740.1_Silent_p.A1189A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1167	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGCCAGCGTCGCGTTCTTGG	0.627000													8	66					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49405978	49405978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:49405978C>A	ENST00000418115.1	-	3	544	c.160G>T	c.(160-162)Gag>Tag	p.E54*	RHOA_ENST00000422781.1_Nonsense_Mutation_p.E54*|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	54					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGCCAACTCTACCTGTAAT	0.463000													9	78					1.12685e-05	1.18103e-05	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475765	120475765	+	Silent	SNP	C	C	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr9:120475765C>T	ENST00000355622.6	+	3	1460	c.1359C>T	c.(1357-1359)gaC>gaT	p.D453D	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.D413D	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	453					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTACCTTGACATTTCTCATA	0.393000													18	74					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													5	47					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512223	4512223	+	Silent	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:4512223G>T	ENST00000301286.3	-	3	1706	c.1707C>A	c.(1705-1707)gtC>gtA	p.V569V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	569	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACCTGTCTGGACAGCCCCCT	0.612000													96	152					1.38319e-45	1.65679e-45	1	1	0
DICER1	23405	broad.mit.edu	37	14	95572071	95572071	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:95572071G>A	ENST00000526495.1	-	21	3328	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S	DICER1_ENST00000541352.1_Missense_Mutation_p.P1013S|DICER1_ENST00000527414.1_Missense_Mutation_p.P1013S|DICER1_ENST00000393063.1_Missense_Mutation_p.P1013S|DICER1_ENST00000343455.3_Missense_Mutation_p.P1013S|DICER1_ENST00000556045.1_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1013	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGCTTAAAGGAAGCGCTTTC	0.348000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				5	46					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808664	8808664	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:8808664G>A	ENST00000324436.3	-	1	508	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	130						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGCAGGTGGCGCCAGATGAGC	0.687000													10	119					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106139933	106139933	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:106139933G>A	ENST00000369704.3	+	9	1454	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	CCDC147_ENST00000369703.1_Silent_p.K62K|CCDC147_ENST00000312902.5_Silent_p.K62K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	440										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATCTGGAAAAGGAGCGTGACC	0.493000													26	95					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	51					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292449	33292449	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:33292449G>T	ENST00000280979.4	+	13	5600	c.5430G>T	c.(5428-5430)ttG>ttT	p.L1810F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1810					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGCCAAAATTGTCTTTGACAA	0.393000													23	61					7.87624e-14	8.85063e-14	1	1	0
SPEG	10290	broad.mit.edu	37	2	220334054	220334054	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:220334054A>T	ENST00000312358.7	+	13	3800	c.3668A>T	c.(3667-3669)cAc>cTc	p.H1223L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1223	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCTGGTTCCACAATGGCCAC	0.642000													6	36					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19585249	19585249	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:19585249C>G	ENST00000330263.4	+	8	942	c.645C>G	c.(643-645)ttC>ttG	p.F215L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	215					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAAGGTTCCAGCAGATGG	0.488000													11	81					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809325	8809325	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:8809325G>A	ENST00000316793.3	-	3	1173	c.549C>T	c.(547-549)ggC>ggT	p.G183G	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	183					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGTCGAAGACGCCGTCAGCCA	0.667000													14	77					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65751528	65751528	+	Silent	SNP	G	G	A			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:65751528G>A	ENST00000304842.5	+	3	1301	c.876G>A	c.(874-876)aaG>aaA	p.K292K	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	292					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTAATCAAGCCAGTCAATG	0.353000													20	41					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228353539	228353539	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr1:228353539delC	ENST00000366711.3	+	1	24	c.22delC	c.(22-24)gafs	p.R8fs		NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	8					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCGCTGCTTCGAGGCGCCAC	0.771													2	4	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162357792	162357793	+	RNA	INS	-	-	T	rs149895753	by1000genomes	TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr2:162357792_162357793insT	ENST00000605990.1	+	0	344																											AGGAACCTCTATTTTTTTAGCT	0.411													9	46	---	---	---	---					
ABI3BP	25890	broad.mit.edu	37	3	100513802	100513802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:100513802delG	ENST00000471714.1	-	53	3993	c.3884delC	c.(3883-3885)cafs	p.P1295fs	ABI3BP_ENST00000284322.5_Frame_Shift_Del_p.P618fs|ABI3BP_ENST00000383691.4_Frame_Shift_Del_p.P572fs			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	618						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTAGGACTTGGGGAAATCAT	0.403													2	4	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176638683	176638693	+	Frame_Shift_Del	DEL	GGCCACTTAAC	GGCCACTTAAC	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176638683_176638693delGGCCACTTAAC	ENST00000439151.2	+	5	3328_3338	c.3283_3293delGGCCACTTAAC	c.(3283-3294)afs	p.GHLT1095fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.GHLT826fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.GHLT992fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.GHLT826fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1095					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGATAATGGGCCACTTAACAAGTGAAGAT	0.436			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	78	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176662896	176662897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:176662896_176662897insT	ENST00000439151.2	+	6	3916_3917	c.3871_3872insT	c.(3871-3873)attfs	p.I1291fs	NSD1_ENST00000354179.4_Frame_Shift_Ins_p.I1022fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.I1188fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.I1022fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1291					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGATCAGATATTTGCTCCT	0.386			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	34	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													2	4	---	---	---	---					
OR2A5	393046	broad.mit.edu	37	7	143748390	143748403	+	Frame_Shift_Del	DEL	GTGCCCTGAAAAGA	GTGCCCTGAAAAGA	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:143748390_143748403delGTGCCCTGAAAAGA	ENST00000408906.2	+	1	930_943	c.896_909delGTGCCCTGAAAAGA	c.(895-909)gfs	p.GALKR299fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GAGGTCAAGGGTGCCCTGAAAAGAGTGTTGTGGA	0.491													12	92	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149152695	149152696	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr7:149152695_149152696insG	ENST00000247930.4	-	2	741_742	c.418_419insC	c.(418-420)gacfs	p.D140fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGAAAGGGTCAGGGGGTCTTTC	0.599													7	355	---	---	---	---					
RNLS	55328	broad.mit.edu	37	10	90122434	90122436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr10:90122434_90122436delGAG	ENST00000371947.3	-	5	1912_1914	c.573_575delCTC	c.(571-576)tct>tc	p.SS191del	RNLS_ENST00000331772.4_In_Frame_Del_p.SS191del|RNLS_ENST00000437752.1_In_Frame_Del_p.SS108del|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	191						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCATATCGAGAGGAGTAGCTCA	0.443													15	64	---	---	---	---					
BHLHE41	79365	broad.mit.edu	37	12	26275624	26275624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:26275624delG	ENST00000242728.4	-	5	1171	c.824delC	c.(823-825)cgfs	p.P275fs		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	275					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CTTGGGCGCCGGCGAGTCCTC	0.786													15	30	---	---	---	---					
TBX3	6926	broad.mit.edu	37	12	115118704	115118706	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr12:115118704_115118706delTGT	ENST00000349155.2	-	2	1598_1600	c.635_637delACA	c.(634-639)att>a	p.NI212del	TBX3_ENST00000257566.3_In_Frame_Del_p.NI212del	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	212					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.N212delN(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTGTCTGAAATGTTGTTGGTGAG	0.438													30	103	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75231000	75231000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr14:75231000delA	ENST00000325680.7	+	1	932	c.808delA	c.(808-810)aafs	p.K270fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.K270fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.K270fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGTGGGGCCAAAAACAAGAG	0.542													17	30	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18624129	18624135	+	Frame_Shift_Del	DEL	GTTATCA	GTTATCA	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr18:18624129_18624135delGTTATCA	ENST00000399799.1	-	6	1543_1549	c.603_609delTGATAAC	c.(601-609)ccfs	p.PDN201fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	201	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCAGCAGCATGTTATCAGGCTTCACAT	0.319													19	63	---	---	---	---					
IGLON5	402665	broad.mit.edu	37	19	51825371	51825371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr19:51825371delT	ENST00000270642.8	+	2	133	c.133delT	c.(133-135)gtfs	p.C45fs		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	45	Ig-like C2-type 1.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						CTACACAGTGTGTGAAGGTGA	0.632													35	124	---	---	---	---					
CLIC6	54102	broad.mit.edu	37	21	36041690	36041690	+	Translation_Start_Site	DEL	G	G	-			TCGA-BB-A5HZ-01A-21D-A28R-08	TCGA-BB-A5HZ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344df542-7977-441a-988e-e9e204965860	0871c9e9-9dc3-4334-b32c-ebef59c9187c	g.chr21:36041690delG	ENST00000360731.3	+	0	3				CLIC6_ENST00000349499.2_Start_Codon_Del			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6							chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CTGCGGCCATGGCCGAGGCCG	0.731													2	4	---	---	---	---