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
ITSN2	50618	broad.mit.edu	37	2	24438918	24438918	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:24438918C>T	uc002rfe.2	-	32	4248	c.3990_splice	c.e32+1	p.K1330_splice	ITSN2_uc002rff.2_Splice_Site_p.K1303_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1330	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAATTACCTTTAAAAATT	0.498000													35	26					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253730	65253730	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:65253730G>A	uc001xht.3	-	14	3004	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	SPTB_uc001xhr.3_Missense_Mutation_p.R985W|SPTB_uc001xhs.3_Missense_Mutation_p.R985W|SPTB_uc001xhu.3_Missense_Mutation_p.R985W	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	985					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCAGGTCCCGCCCCAGGTCT	0.602000													28	42					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:45390482C>G	uc011dvx.2	+	2	421	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_uc011dvy.2_Missense_Mutation_p.Q71E|RUNX2_uc003oxt.3_Missense_Mutation_p.Q57E	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000													3	47					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380919	65380919	+	Silent	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:65380919A>C	uc001oew.3	-	0	802	c.309T>G	c.(307-309)ggT>ggG	p.G103G	MAP3K11_uc010rol.2_5'Flank|PCNXL3_uc001oey.2_5'Flank	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	103	Gly-rich.|SH3.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGGGCCGCCACCCCGAGACA	0.687000													9	113					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58795010	58795010	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:58795010T>G	uc001xdp.3	+	8	892	c.638T>G	c.(637-639)gTt>gGt	p.V213G	ARID4A_uc001xdo.3_Missense_Mutation_p.V213G|ARID4A_uc001xdq.3_Missense_Mutation_p.V213G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	213					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGTTTAGTTCGATCATTT	0.333000													15	20					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:106508394C>T	uc003vdv.4	+	1	473	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	PIK3CG_uc003vdu.3_Missense_Mutation_p.R130W|PIK3CG_uc003vdw.3_Missense_Mutation_p.R130W	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCCACGCACCGGAGCCCGGG	0.637000													33	39					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825307	121825307	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:121825307A>C	uc003eet.3	+	3	791	c.663A>C	c.(661-663)gaA>gaC	p.E221D	CD86_uc011bjo.2_Missense_Mutation_p.E139D|CD86_uc011bjp.2_Missense_Mutation_p.E109D|CD86_uc003eeu.3_Missense_Mutation_p.E215D|CD86_uc021xcz.1_Missense_Mutation_p.E215D	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	221	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTATTCTGGAAACTGACAAGA	0.388000													47	153					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52865910	52865910	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:52865910C>T	uc001sal.4	-	1	743	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	232	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAGGCGGCCCCGTTCCCCGAC	0.572000													100	24					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127358250	127358250	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:127358250G>T	uc003ejq.2	+	1	257	c.233G>T	c.(232-234)gGc>gTc	p.G78V		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	78					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCCCCTGGCTCAGGCTTC	0.597000													30	46					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944753	4944753	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:4944753C>T	uc010qyr.2	-	0	817	c.817G>A	c.(817-819)Gtt>Att	p.V273I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGTGTACAACGCGGGGCAGA	0.493000													5	106					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584324	138584324	+	Silent	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:138584324G>T	uc003qhu.3	+	11	1875	c.1704G>T	c.(1702-1704)acG>acT	p.T568T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	568					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGCCACACGGTCCCTTACC	0.507000													10	118					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16342195	16342195	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:16342195G>A	uc001axr.2	-	2	1235	c.672C>T	c.(670-672)gaC>gaT	p.D224D	HSPB7_uc001axo.2_Silent_p.D131D|HSPB7_uc001axp.2_Silent_p.D214D|HSPB7_uc001axq.2_Silent_p.D223D|HSPB7_uc001axs.2_Silent_p.D206D	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	131					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGTCCACGTCCTCCGGCA	0.677000													72	48					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543050	14543050	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:14543050G>A	uc010dln.3	-	0	550	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	32										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCAGCAGGGGAAGCGGTGGT	0.552000													119	114					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54385303	54385303	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:54385303A>G	uc002lgk.1	+	12	1898	c.1687A>G	c.(1687-1689)Att>Gtt	p.I563V	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.I563V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	563										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTTTTTCCTATTCAAGTAAT	0.443000													36	99					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964703	176964703	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:176964703C>T	uc010zev.1	+	0	174	c.174C>T	c.(172-174)tgC>tgT	p.C58C	HOXD12_uc021vsp.1_Silent_p.C58C	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	58						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGCCTCCTGCGCCCCCGCGC	0.741000													7	30					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709220	19709220	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:19709220C>T	uc002zpv.2	+	8	900	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	SEPT5_uc002zpw.1_Missense_Mutation_p.R268W|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	259					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAAGGGGCAGCGGGTCCGGGG	0.672000													31	120					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61959155	61959155	+	Missense_Mutation	SNP	C	C	T	rs148779841		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:61959155C>T	uc002jcl.1	-	0	69	c.7G>A	c.(7-9)Gca>Aca	p.A3T	GH2_uc002jcn.1_Missense_Mutation_p.A3T|GH2_uc002jco.1_Missense_Mutation_p.A3T|GH2_uc002jcm.1_Missense_Mutation_p.A3T	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	3						extracellular region	hormone activity	p.A3T(3)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CGCTTACCTGCAGCCATTGCC	0.597000													4	85					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:124418865C>T	uc003ehg.3	+	55	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_uc003ehk.3_Nonsense_Mutation_p.R964*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													4	211					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65472892	65472892	+	Splice_Site	SNP	G	G	T	rs74781178		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:65472892G>T	uc001xic.1	-	4	452	c.282_splice	c.e4+1		CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|CHURC1-FNTB_uc001xia.3_Intron	NM_197957	NP_932061	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 6, mRNA.						transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTTTTTTTTTGCCACCATTTC	0.368000													10	64					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109861	42109861	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:42109861C>T	uc001zok.4	+	16	2136	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	MAPKBP1_uc010bci.3_Missense_Mutation_p.T611M|MAPKBP1_uc010udb.2_Missense_Mutation_p.T450M|MAPKBP1_uc001zoj.4_Missense_Mutation_p.T611M|MAPKBP1_uc010bcj.3_Missense_Mutation_p.T118M|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.T118M	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	617										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCGGAAGACGACCCTCTAT	0.612000													27	20					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125711778	125711778	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:125711778G>T	uc003yrl.2	-	2	731	c.197C>A	c.(196-198)aCc>aAc	p.T66N	MTSS1_uc003yrj.2_Missense_Mutation_p.T66N|MTSS1_uc003yrk.2_Missense_Mutation_p.T66N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	66	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGTGTGTTGGTGGCCATGTC	0.493000													26	24					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309473	24309473	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:24309473C>T	uc002nru.3	+	3	805	c.671C>T	c.(670-672)aCc>aTc	p.T224I	ZNF254_uc010xrk.2_Missense_Mutation_p.T139I	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	224					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T224I(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGTCCTCAACCCTTACTAAT	0.328000													22	51					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20862655	20862655	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20862655C>T	uc003zog.1	+	17	2362	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	FOCAD_uc003zoh.1_Silent_p.L103L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	667						integral to membrane	binding										TCTGAAGACACTGAGTGAACT	0.428000													67	8					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595499	216595499	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:216595499G>A	uc001hku.1	-	1	567	c.180C>T	c.(178-180)ctC>ctT	p.L60L	USH2A_uc001hkv.3_Silent_p.L60L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	60					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCGGTCTGGGAGTCCACATA	0.483000										HNSCC(13;0.011)			37	28					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908389	166908389	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:166908389C>T	uc002udo.4	-	7	1031	c.804G>A	c.(802-804)ctG>ctA	p.L268L	SCN1A_uc010fpk.3_Silent_p.L268L|SCN1A_uc021vsb.1_Silent_p.L268L	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	268						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCCATGAACAGCTGCAGCC	0.433000													25	79					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54619970	54619970	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:54619970C>A	uc003jpy.4	+	2	549	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SKIV2L2_uc011cqi.2_Intron	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	95					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTGGCAGACCTGATGCCCAG	0.348000													6	18					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	229480	229480	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:229480G>A	uc004cpe.1	-	1	183	c.182C>T	c.(181-183)aCg>aTg	p.T61M	GTPBP6_uc011mgy.1_Missense_Mutation_p.T41M	NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	290						intracellular	GTP binding	p.D60D(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTCCCGCCTCGTCCGCTGCCG	0.662000													29	10					0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:132912341C>T	uc002tti.3	-	4		c.755_splice	c.e4-1		ANKRD30BL_uc002ttj.3_Splice_Site					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.									p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313000													4	11					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766724	57766724	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766724G>T	uc002yan.3	+	0	650	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	217						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGAGGAAGGGGACAAGGCC	0.687000													32	124					0	0	1	0	0
PRH1	5554	broad.mit.edu	37	12	11036812	11036812	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:11036812A>G	uc021qvf.1	-	0	63	c.5T>C	c.(4-6)cTt>cCt	p.L2P	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_006250	NP_006241	P02810	PRPC_HUMAN	Homo sapiens proline-rich protein HaeIII subfamily 1 (PRH1), mRNA.	2						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CAGAATCAGAAGCATCTTGCA	0.488000													19	61					0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22785204	22785204	+	RNA	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:22785204C>A	uc002nqu.4	+	6		c.1380C>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGCTCACCTGCTGGCCTGGGC	0.657000													9	6					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	11					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046475	17046475	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:17046475C>A	uc001azn.1	-	0	178	c.64G>T	c.(64-66)Gtc>Ttc	p.V22F						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TAGTGCCTGACGAGAAGCCTC	0.622000													13	133					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12531391	12531391	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:12531391A>G	uc003bxc.3	+	1	479	c.92A>G	c.(91-93)cAt>cGt	p.H31R	TSEN2_uc003bwz.3_Missense_Mutation_p.H31R|TSEN2_uc003bxa.3_Missense_Mutation_p.H31R|TSEN2_uc011auq.1_Missense_Mutation_p.H31R|TSEN2_uc003bxb.3_Missense_Mutation_p.H31R|TSEN2_uc011aur.1_5'UTR	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	31					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGTCAGGACCATGGTCCTCTG	0.433000													30	67					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993823	35993823	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:35993823G>A	uc004ddj.3	+	14	2572	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	836										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGTACCCAGTGGACACATCCT	0.388000													47	68					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1572453	1572453	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:1572453C>T	uc001agv.1	-	15	1759	c.1676G>A	c.(1675-1677)gGc>gAc	p.G559D	CDK11B_uc009vkj.2_Missense_Mutation_p.G218D|CDK11B_uc001ags.1_Missense_Mutation_p.G419D|CDK11B_uc001agt.1_Missense_Mutation_p.G344D|CDK11B_uc001aha.1_Missense_Mutation_p.G525D|CDK11B_uc001agw.1_Missense_Mutation_p.G509D|CDK11B_uc001agy.1_Missense_Mutation_p.G552D|CDK11B_uc001agx.1_Missense_Mutation_p.G543D|CDK11B_uc001agz.1_Missense_Mutation_p.G305D	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	574	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTGAGGATGCCGGCGTGGCT	0.647000													4	152					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38067982	38067982	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:38067982C>G	uc003xky.2	+	4	1627	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	BAG4_uc003xkz.2_Missense_Mutation_p.L413V	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	449	BAG.				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TCAGGCCATACTGGAAAAATT	0.408000													4	96					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000													5	56					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:46279833G>A	uc002xtk.3	+	19	4020	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_uc002xtl.3_Silent_p.Q1249Q|NCOA3_uc002xtn.3_Silent_p.Q1252Q|NCOA3_uc010ght.2_Silent_p.Q1244Q|NCOA3_uc002xtm.3_Silent_p.Q1248Q|NCOA3_uc010zyc.2_Silent_p.Q1048Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													4	86					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20041425	20041425	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:20041425G>A	uc001umd.3	-	7	663	c.452C>T	c.(451-453)cCt>cTt	p.P151L	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	151						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I151V(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACCAGCAGAGGAATCACAAT	0.289000													3	78					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237782	38237782	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:38237782A>C	uc010abx.3	-	5	1694	c.1459T>G	c.(1459-1461)Ttc>Gtc	p.F487V	TRPC4_uc010abv.3_Missense_Mutation_p.F67V|TRPC4_uc001uwt.3_Missense_Mutation_p.F487V|TRPC4_uc001uws.3_Missense_Mutation_p.F487V|TRPC4_uc010tey.2_Missense_Mutation_p.F487V|TRPC4_uc010abw.3_Missense_Mutation_p.F314V|TRPC4_uc010aby.3_Missense_Mutation_p.F487V	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	487					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAACTGAAGATGTTTGCA	0.448000													22	53					0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	2	174081932	174081932	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:174081932G>T	uc002uhz.3	+	10	1141	c.941G>T	c.(940-942)cGt>cTt	p.R314L	RCAN2_uc002uhy.3_Missense_Mutation_p.R314L|RCAN2_uc010zei.2_Missense_Mutation_p.R213L|MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGAGAAAGACGTTTAAAGATG	0.532000													15	97					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44608737	44608737	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:44608737G>T	uc003tlg.3	-	9	1928	c.1285C>A	c.(1285-1287)Cgc>Agc	p.R429S	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R389S|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	429					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding	p.R429C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCCTGCAGCGATAGCGGAAG	0.627000													20	74					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630096	128630096	+	Missense_Mutation	SNP	C	C	T	rs150330408		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:128630096C>T	uc010lly.2	-	10	1922	c.1519G>A	c.(1519-1521)Gta>Ata	p.V507I	TNPO3_uc003vol.2_Missense_Mutation_p.V473I|TNPO3_uc010llz.2_Missense_Mutation_p.V473I|TNPO3_uc003vom.2_Missense_Mutation_p.V407I	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	473					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCCGTATGTACGGTCTCCGGG	0.478000													88	107					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153250873	153250873	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr4:153250873C>T	uc003ims.3	-	7	1349	c.1187G>A	c.(1186-1188)aGt>aAt	p.S396N	FBXW7_uc011cii.2_Missense_Mutation_p.S396N|FBXW7_uc003imt.3_Missense_Mutation_p.S396N|FBXW7_uc011cih.2_Missense_Mutation_p.S220N|FBXW7_uc003imq.3_Missense_Mutation_p.S316N|FBXW7_uc003imr.3_Missense_Mutation_p.S278N	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	396					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCAGAACCACTAACTATTCG	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								44	7					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626633	80626633	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:80626633G>T	uc003khl.4	-	14	1573	c.1518_splice	c.e14+1	p.I506_splice	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	506	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCAAACTTACGATGCATGAAT	0.398000													16	25					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716562	50716562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:50716562C>T	uc003bkv.4	-	30	4964	c.4871G>A	c.(4870-4872)cGg>cAg	p.R1624Q	PLXNB2_uc003bkt.1_Missense_Mutation_p.R416Q|PLXNB2_uc003bku.1_Missense_Mutation_p.R609Q	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1624					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGAGCAGCCGCGTCAGGTA	0.687000													28	9					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977377	29977377	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:29977377C>G	uc021yty.1	+	4	423	c.405C>G	c.(403-405)ttC>ttG	p.F135L	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.F132L					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TTTGTGACTTCAAGAACCCTG	0.458000													3	43					0	0	1	0	0
PGM5P2	595135	broad.mit.edu	37	9	69117826	69117826	+	RNA	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:69117826A>G	uc004aff.4	-	3		c.777T>C								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		GGAGGTTAAGATAGATATCCA	0.413000													91	20					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59793305	59793305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:59793305A>T	uc001xdz.1	+	10	1377	c.1252A>T	c.(1252-1254)Aaa>Taa	p.K418*	DAAM1_uc001xea.1_Nonsense_Mutation_p.K418*|DAAM1_uc001xeb.1_Nonsense_Mutation_p.K418*	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	418	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding	p.D417V(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCAGAATGACAAAGGACAGGA	0.378000													46	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:141625828G>A	uc002tvj.1	-	25	5146	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F	LRP1B_uc010fnl.1_Missense_Mutation_p.L574F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1392					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.353000										TSP Lung(27;0.18)			14	44					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88390583	88390583	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:88390583G>A	uc002ssr.3	+	3	666	c.581G>A	c.(580-582)gGc>gAc	p.G194D	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	194	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCGTGGGCGTAGGCATC	0.498000													65	176					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050918	81050918	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr10:81050918G>A	uc001kaf.2	+	9	1315	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZMIZ1_uc001kag.2_Missense_Mutation_p.G124E|ZMIZ1_uc001kah.1_Missense_Mutation_p.G124E	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	248					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCGGCAGCGGGGGCTTTGGG	0.652000													7	38					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613764	3613764	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr16:3613764C>A	uc010btn.3	-	4	1585	c.1174G>T	c.(1174-1176)Ggt>Tgt	p.G392C		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	392	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding	p.R391H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCGGCCACCATGGGCCACC	0.587000													14	21					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:100684160C>T	uc003uxp.1	+	2	9516	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3155	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478000													6	758					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766698	57766698	+	Silent	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766698C>A	uc002yan.3	+	0	624	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	208						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTCCGAGGGCGCCGGGGGCG	0.677000													42	131					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70541903	70541903	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:70541903C>G	uc003xyg.2	+	17	2834	c.2273C>G	c.(2272-2274)cCg>cGg	p.P758R	SULF1_uc010lza.1_Missense_Mutation_p.P758R|SULF1_uc003xyd.2_Missense_Mutation_p.P758R|SULF1_uc003xye.2_Missense_Mutation_p.P758R|SULF1_uc003xyf.2_Missense_Mutation_p.P758R|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'UTR	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	758					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522000													66	1417					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107374496	107374496	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:107374496C>T	uc004enr.3	+	3	358	c.200C>T	c.(199-201)aCg>aTg	p.T67M	ATG4A_uc004ens.3_5'UTR|ATG4A_uc011msl.2_5'UTR|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.T67M	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	67					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ACAGGTGGAACGGGCCCTTCA	0.473000													38	87					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		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								4	59					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184073266	184073266	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:184073266G>A	uc003foi.3	-	11	1346	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	CLCN2_uc003foh.3_5'UTR|CLCN2_uc010hya.2_Missense_Mutation_p.R408C|CLCN2_uc011brl.2_Missense_Mutation_p.R408C|CLCN2_uc011brm.2_Missense_Mutation_p.R364C|CLCN2_uc011brn.1_Missense_Mutation_p.R408C	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	408						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582000													59	83					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9082062	9082062	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:9082062G>A	uc001mhi.2	-	7	935	c.860C>T	c.(859-861)gCt>gTt	p.A287V	SCUBE2_uc001mhj.2_Missense_Mutation_p.A287V	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	287	EGF-like 6 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATTGTTGACAGCACACGTTTC	0.498000													4	134					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870055	151870055	+	Missense_Mutation	SNP	T	T	C	rs140963484	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:151870055T>C	uc022chf.1	+	0	745	c.745T>C	c.(745-747)Tat>Cat	p.Y249H	MAGEA6_uc004ffq.1_Missense_Mutation_p.Y249H|MAGEA6_uc004ffr.1_Missense_Mutation_p.Y249H	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	249	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACCCAATATTTCGTGCA	0.547000													83	147					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987765	154987765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:154987765delA	uc001fgj.4	+	4	1016	c.731delA	c.(730-732)caafs	p.Q244fs	ZBTB7B_uc009wpa.3_Frame_Shift_Del_p.Q210fs|ZBTB7B_uc001fgk.4_Frame_Shift_Del_p.Q210fs|ZBTB7B_uc010peq.2_Frame_Shift_Del_p.Q244fs|ZBTB7B_uc001fgl.4_Frame_Shift_Del_p.Q210fs	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	210					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G243G(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTTTCCTGCAAACCAAGGGG	0.672													114	228	---	---	---	---					
LAMC1	3915	broad.mit.edu	37	1	182993005	182993018	+	Frame_Shift_Del	DEL	CCCGAGTTCGTCAA	CCCGAGTTCGTCAA	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:182993005_182993018delCCCGAGTTCGTCAA	uc001gpy.4	+	0	411_424	c.154_167delCCCGAGTTCGTCAA	c.(154-168)cccgagttcgtcaacfs	p.P52fs	LAMC1_uc001gpx.3_Frame_Shift_Del_p.P52fs	NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	52	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCTGCATGCCCGAGTTCGTCAACGCCGCCTTC	0.710													8	55	---	---	---	---					
KBTBD10	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:170366496delA	uc002ueu.1	+	0	285	c.208delA	c.(208-210)aaafs	p.K70fs	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	70	BTB.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		p.A69V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TGATGAGGCGAAAAAAAAGGA	0.388													7	270	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:48746799delT	uc003xqi.3	-	59	8164	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_uc003xqj.3_Frame_Shift_Del_p.R2703fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					13	3275	---	---	---	---					
TGS1	96764	broad.mit.edu	37	8	56711599	56711599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:56711599delA	uc003xsj.4	+	7	2056	c.1669delA	c.(1669-1671)aaafs	p.K557fs	TGS1_uc010lyh.3_Frame_Shift_Del_p.K461fs	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	557					RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CATGTCTGTTAAAAAAGGTGA	0.403													7	834	---	---	---	---					
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:5603608_5603609insC	uc001qnl.4	+	0	311_312	c.228_229insC	c.(226-231)gggcccfs	p.G76fs	NTF3_uc001qnk.4_Frame_Shift_Ins_p.G89fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	76			G -> E (in dbSNP:rs1805149).		signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579													8	125	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:7579718delA	uc002gim.2	-	2	272	c.78delT	c.(76-78)cttfs	p.L26fs	TP53_uc002gig.1_Frame_Shift_Del_p.L26fs|TP53_uc002gih.3_Frame_Shift_Del_p.L26fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.L26fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L26fs|TP53_uc002gij.2_Frame_Shift_Del_p.L26fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Frame_Shift_Del_p.L26fs|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.L41fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L26fs*18(2)|p.L26fs*11(2)|p.P13fs*18(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)		TGTTTTCAGGAAGTCTGAAAG	0.622		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)			56	23	---	---	---	---					
