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
DNAJC11	55735	broad.mit.edu	37	1	6727822	6727822	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:6727822G>A	uc001aof.2	-	3	431	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DNAJC11_uc001aog.2_Missense_Mutation_p.R109W|DNAJC11_uc010nzu.1_Missense_Mutation_p.R19W	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	109					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGCAGCCGCTCAAACTCC	0.522												
MST1P9	11223	broad.mit.edu	37	1	17085479	17085479	+	Silent	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:17085479T>C	uc010ock.2	-	9	1212	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GTCTCAACCATTTCCAGGCTC	0.617												
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:85331664_85331665insA	uc001dkl.2	-	0	178_179	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	47					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401												
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:145324371T>C	uc021oul.1	+	27	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1189										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)		CTGCTGGAGGTAGTAGCGCCT	0.498												
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	Splice_Site	SNP	A	A	G	rs9729175	by1000genomes	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:148933289A>G	uc010pbc.1	+	3		c.236_splice	c.e3-2		LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		TGCTGCCCGCAGGATATTGTG	0.562												
TDRKH	11022	broad.mit.edu	37	1	151755433	151755433	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:151755433C>T	uc009wnb.1	-	1	248	c.66G>A	c.(64-66)ggG>ggA	p.G22G	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G22G|TDRKH_uc001ezc.4_Silent_p.G22G|TDRKH_uc001eza.4_Silent_p.G22G|TDRKH_uc001ezd.4_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	22							RNA binding	p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTGGGATCCCAAGGCCCA	0.463												
CRTC2	200186	broad.mit.edu	37	1	153921628	153921628	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:153921628G>A	uc021pab.1	-	11	1796	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S82F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	546					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGGTGGTAAGACTGTTGCCC	0.597												
OR10J3	441911	broad.mit.edu	37	1	159283999	159283999	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:159283999C>T	uc010piu.2	-	0	451	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)|p.L150M(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAATCCCCAGTGATCCA	0.507												
POU2F1	5451	broad.mit.edu	37	1	167358969	167358969	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:167358969C>G	uc001gec.3	+	9	1128	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.Q320E|POU2F1_uc010plh.2_Missense_Mutation_p.Q257E|POU2F1_uc001ged.3_Missense_Mutation_p.Q295E|POU2F1_uc001gef.3_Missense_Mutation_p.Q309E|POU2F1_uc001geg.3_Missense_Mutation_p.Q195E	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	297	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACCTTCAAACAAAGACGAAT	0.483												
SWT1	54823	broad.mit.edu	37	1	185143825	185143825	+	Missense_Mutation	SNP	G	G	C	rs146489629	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:185143825G>C	uc001grg.4	+	4	660	c.546G>C	c.(544-546)aaG>aaC	p.K182N	SWT1_uc001grh.4_Missense_Mutation_p.K182N	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	182										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGAGAGAAGATGAAAGAAC	0.353												
CFH	3075	broad.mit.edu	37	1	196694295	196694295	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:196694295G>A	uc001gtj.4	+	11	1981	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	581	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTAGTTCCTGATCGCAAGAA	0.343												
TLL2	7093	broad.mit.edu	37	10	98155658	98155658	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:98155658C>T	uc001kml.2	-	11	1745	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	TLL2_uc009xvf.2_Missense_Mutation_p.V480M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	502	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTAAGTCCCACGTGAAACCCC	0.498											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHUK	1147	broad.mit.edu	37	10	101960490	101960490	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:101960490A>G	uc001kqp.3	-	14	1672	c.1617T>C	c.(1615-1617)gcT>gcC	p.A539A		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	539					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCATGATTTCAGCATGCAAAG	0.413												
MYO7A	4647	broad.mit.edu	37	11	76901767	76901767	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr11:76901767T>C	uc001oyb.2	+	29	4048	c.3776T>C	c.(3775-3777)aTg>aCg	p.M1259T	MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1259	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCAATCATGTTGCCCGTG	0.597												
C12orf35	55196	broad.mit.edu	37	12	32135884	32135884	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:32135884C>G	uc001rks.3	+	3	2409	c.1995C>G	c.(1993-1995)gaC>gaG	p.D665E		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	665										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CTAAAAGTGACAGTAGCTGTT	0.423												
ABCD2	225	broad.mit.edu	37	12	40013182	40013182	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:40013182C>G	uc001rmb.2	-	0	662	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	79	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCATTCACTCCAGGCGAAGG	0.463												
OR6C2	341416	broad.mit.edu	37	12	55846834	55846834	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:55846834C>T	uc001sgz.1	+	0	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTACTTCTGTCGCACCCTTGT	0.408												
LEMD3	23592	broad.mit.edu	37	12	65637180	65637180	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:65637180A>G	uc001ssl.2	+	9	2344	c.2318A>G	c.(2317-2319)gAt>gGt	p.D773G	LEMD3_uc009zqo.2_Missense_Mutation_p.D772G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	773	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTCATTTAGATAGAAGAAAT	0.303												
IKBIP	121457	broad.mit.edu	37	12	99007867	99007867	+	Silent	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:99007867T>C	uc001tfv.3	-	2	659	c.549A>G	c.(547-549)tcA>tcG	p.S183S	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	183					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTACTAAACCTGAAATCCGTC	0.308												
ACADS	35	broad.mit.edu	37	12	121176677	121176677	+	Missense_Mutation	SNP	C	C	T	rs140853839	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:121176677C>T	uc001tza.4	+	7	1106	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	ACADS_uc010szl.1_Missense_Mutation_p.R326C	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)|p.R330C(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCTGACCTGGCGCGCTGCCAT	0.637												
MMP14	4323	broad.mit.edu	37	14	23312494	23312494	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr14:23312494C>T	uc001whc.3	+	4	951	c.717C>T	c.(715-717)caC>caT	p.H239H		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	239						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGCTGTGCACGAGCTGGGCC	0.602												
TMC7	79905	broad.mit.edu	37	16	19073157	19073157	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr16:19073157A>T	uc002dfq.3	+	15	2294	c.2164A>T	c.(2164-2166)Agg>Tgg	p.R722W	TMC7_uc010vap.2_Missense_Mutation_p.R612W	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGGGACATGAGGAACTAACT	0.418												
ULK2	9706	broad.mit.edu	37	17	19699577	19699577	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:19699577T>G	uc002gwm.4	-	18	2337	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L	ULK2_uc002gwn.3_Missense_Mutation_p.I610L	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	610					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTTTAGGGATTTTGAAAGGA	0.413												
CNTNAP1	8506	broad.mit.edu	37	17	40847561	40847561	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:40847561G>A	uc002iay.3	+	18	3231	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1005					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P1005P(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567												
TBCD	6904	broad.mit.edu	37	17	80842049	80842049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:80842049C>T	uc002kfy.1	+	14	1634	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	TBCD_uc002kfx.1_Nonsense_Mutation_p.R485*|TBCD_uc002kfz.3_Nonsense_Mutation_p.R502*	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	502					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGTGTTTGACCGAGACATAAA	0.443												
ZNF492	57615	broad.mit.edu	37	19	22846757	22846757	+	Nonsense_Mutation	SNP	G	G	T	rs112130958		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:22846757G>T	uc002nqw.3	+	3	530	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I96K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTGCACAAAGAATGTTACAA	0.299												
CEACAM5	1048	broad.mit.edu	37	19	42224052	42224052	+	Missense_Mutation	SNP	G	G	A	rs138799075	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:42224052G>A	uc002orl.3	+	6	1817	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	CEACAM5_uc002orj.1_Missense_Mutation_p.A565T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	566	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AAGAAATGACGCAAGAGCCTA	0.522												
KLK11	11012	broad.mit.edu	37	19	51528895	51528895	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:51528895A>G	uc002pvd.1	-	1	201	c.89T>C	c.(88-90)cTc>cCc	p.L30P	KLK11_uc002pvc.4_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc010eom.3_5'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATGGCCTGGAGGGGGGAGGA	0.627												
LILRB2	10288	broad.mit.edu	37	19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:54783717C>T	uc002qfb.3	-	3	550	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R95Q|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R95Q|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.G94G(1)|p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557												
HEATR5B	54497	broad.mit.edu	37	2	37295836	37295836	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:37295836T>C	uc002rpp.1	-	7	1261	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	389							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGGCTTTCATTTGTTTTCCA	0.353												
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:99977775_99977777delTGA	uc002tab.3	+	3	595_597	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	142	Poly-Asp.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345												
KIF5C	3800	broad.mit.edu	37	2	149793797	149793797	+	Splice_Site	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:149793797G>A	uc010zbu.2	+	4	687	c.292_splice	c.e4-1	p.G98_splice		NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	98	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCGCCCACTAGGGGAAGCTGC	0.512												
SIRPG	55423	broad.mit.edu	37	20	1629729	1629729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:1629729C>A	uc002wfm.1	-	1	464	c.399G>T	c.(397-399)aaG>aaT	p.K133N	SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	133	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGTCCAGACTTAAACTCCA	0.493												
SIGLEC1	6614	broad.mit.edu	37	20	3673751	3673751	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:3673751T>C	uc002wja.3	-	13	3536	c.3536A>G	c.(3535-3537)tAc>tGc	p.Y1179C	SIGLEC1_uc002wiz.4_Missense_Mutation_p.Y1179C|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1179	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCCAGGAGGTAGGTCAGGCG	0.682												
NTSR1	4923	broad.mit.edu	37	20	61340984	61340984	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:61340984G>A	uc002ydf.3	+	0	796	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	142						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCGGCTGCCGCGGCTACTAC	0.677												
TBX1	6899	broad.mit.edu	37	22	19748718	19748718	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:19748718G>T	uc002zqa.1	+	2	454	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	TBX1_uc002zqb.3_Missense_Mutation_p.G109C|TBX1_uc002zqc.3_Missense_Mutation_p.G109C	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	109					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAAGGTGGCCGGTGTGAGCGT	0.726												
LZTR1	8216	broad.mit.edu	37	22	21341825	21341825	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:21341825G>A	uc002zto.3	+	3	456	c.353G>A	c.(352-354)cGt>cAt	p.R118H	LZTR1_uc002ztn.3_Missense_Mutation_p.R77H|LZTR1_uc011ahy.2_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	118					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGGCCCCCCGTTACCACCAC	0.662												
TFIP11	24144	broad.mit.edu	37	22	26890269	26890269	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:26890269A>C	uc003acr.2	-	13	2367	c.1993_splice	c.e13-1	p.V665_splice	TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Splice_Site_p.V665_splice|TFIP11_uc003act.2_Splice_Site_p.V665_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	665					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463												
NEFH	4744	broad.mit.edu	37	22	29886360	29886360	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:29886360C>A	uc003afo.3	+	3	2802	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	917	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGCTCCTGCCAAGGT	0.502												
DEPDC5	9681	broad.mit.edu	37	22	32275577	32275577	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:32275577G>A	uc011alu.2	+	37	4074	c.3872G>A	c.(3871-3873)cGc>cAc	p.R1291H	DEPDC5_uc011als.2_Missense_Mutation_p.R1191H|DEPDC5_uc003als.3_Missense_Mutation_p.R1260H|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1282H|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R709H|DEPDC5_uc003alw.3_Missense_Mutation_p.R558H|DEPDC5_uc011alx.2_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.3_Missense_Mutation_p.R286H|DEPDC5_uc011aly.2_Missense_Mutation_p.R108H	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1260					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTCCAGCGCAAGTGGTTT	0.607												
STXBP5L	9515	broad.mit.edu	37	3	120871386	120871386	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:120871386A>G	uc003eec.4	+	7	872	c.732A>G	c.(730-732)gaA>gaG	p.E244E	STXBP5L_uc011bji.2_Silent_p.E244E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	244					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGAGCAGAACTGAGAGTTT	0.333												
PEX5L	51555	broad.mit.edu	37	3	179616029	179616029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:179616029delT	uc003fki.1	-	2	229	c.99delA	c.(97-99)aaafs	p.K33fs	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	33					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTAGAGCCTTTTCCCTATA	0.413												
MB21D2	151963	broad.mit.edu	37	3	192517421	192517421	+	Missense_Mutation	SNP	T	T	C	rs117555490	by1000genomes	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:192517421T>C	uc011bsp.2	-	1	551	c.230A>G	c.(229-231)gAc>gGc	p.D77G		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	77										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AAGCTTTTGGTCCAGCTTTTG	0.443												
NKX3-2	579	broad.mit.edu	37	4	13546023	13546023	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr4:13546023C>T	uc003gmx.2	-	0	92	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	6					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGGTGTTGGCGCCGCGCACA	0.771												
GEMIN5	25929	broad.mit.edu	37	5	154275813	154275813	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:154275813G>C	uc003lvx.3	-	23	3519	c.3436C>G	c.(3436-3438)Cac>Gac	p.H1146D	GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1146					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAAGTGTGGTAAGAGGAG	0.547												
AGXT2L2	85007	broad.mit.edu	37	5	177649920	177649920	+	Missense_Mutation	SNP	C	C	T	rs142142484	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:177649920C>T	uc003miz.3	-	6	886	c.634G>A	c.(634-636)Gct>Act	p.A212T	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.A171T|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	212						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGAGACTCAGCGAAGAAGGCT	0.587												
BMP6	654	broad.mit.edu	37	6	7727630	7727630	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:7727630G>A	uc003mxu.4	+	0	620	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	148					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCCGACAACGACGAGGACGG	0.731												
NFKBIE	4794	broad.mit.edu	37	6	44229437	44229437	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:44229437C>A	uc003oxe.1	-	2	1059	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	345					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCAGGCAGCGGGCACA	0.632												
COL19A1	1310	broad.mit.edu	37	6	70589454	70589454	+	Translation_Start_Site	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:70589454G>T	uc003pfc.1	+	1						NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGGTTTCAAGGCACAATGAG	0.418												
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	T	rs143103700	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:112671523C>T	uc003pvx.1	+	2	925	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RFPL4B_uc021zdy.1_Missense_Mutation_p.R205C	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	205	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448												
DSE	29940	broad.mit.edu	37	6	116757341	116757341	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:116757341C>A	uc011ebg.2	+	5	1866	c.1767C>A	c.(1765-1767)gaC>gaA	p.D589E	DSE_uc003pws.3_Missense_Mutation_p.D570E|DSE_uc003pwt.3_Missense_Mutation_p.D570E|DSE_uc003pwu.3_Missense_Mutation_p.D237E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	570					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCTTGTAGACCAAATACACC	0.502												
CLIP2	7461	broad.mit.edu	37	7	73771699	73771699	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr7:73771699G>A	uc003uam.3	+	5	1434	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIP2_uc003uan.3_Silent_p.E369E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	369						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCACATTGAGCAGCTGCTGG	0.617												
PRUNE2	158471	broad.mit.edu	37	9	79321219	79321219	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:79321219C>G	uc010mpk.3	-	7	6095	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1813Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1991					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTGACCTTCATTAGTTGAA	0.423												
DAPK1	1612	broad.mit.edu	37	9	90266587	90266587	+	Missense_Mutation	SNP	C	C	T	rs36214022		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:90266587C>T	uc004apc.3	+	16	1910	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	DAPK1_uc004apd.3_Missense_Mutation_p.P591L|DAPK1_uc011ltg.2_Missense_Mutation_p.P591L|DAPK1_uc011lth.2_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	591			P -> L.		apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCAACATGCCTATCGTGGTG	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of			
