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
SIGIRR	59307	broad.mit.edu	37	11	406533	406533	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:406533A>G	uc001lpg.3	-	7	1038	c.885T>C	c.(883-885)ccT>ccC	p.P295P	SIGIRR_uc001lpd.2_Silent_p.P295P|SIGIRR_uc001lpf.2_Silent_p.P295P|SIGIRR_uc001lpe.1_Silent_p.P295P			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	295	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCGGAGGAAGGAGTCTGGG	0.652000													38	64					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820627	35820627	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:35820627C>T	uc010ngt.1	+	1	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_uc022bus.1_Missense_Mutation_p.P105L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468000													10	14					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25213099	25213099	+	Missense_Mutation	SNP	G	G	A	rs142583293		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:25213099G>A	uc001ywu.3	+	2	257	c.131G>A	c.(130-132)cGt>cAt	p.R44H	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0				Missing (in Ref. 8).	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TACCCGAGGCGTTCTCAGCAG	0.413000									Prader-Willi syndrome				32	67					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7811372	7811372	+	Missense_Mutation	SNP	G	G	A	rs151250046		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:7811372G>A	uc002mht.2	-	2	219	c.152C>T	c.(151-153)aCg>aTg	p.T51M	CD209_uc010xju.1_Missense_Mutation_p.T51M|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Intron|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Missense_Mutation_p.T51M|CD209_uc010dvq.2_Missense_Mutation_p.T51M|CD209_uc002mhq.2_Missense_Mutation_p.T51M|CD209_uc002mhv.2_Intron|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.T51M	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	51					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAAGAGCGTGAAGGAGAG	0.647000													38	110					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47891524	47891524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:47891524G>C	uc003cru.3	+	21	3925	c.3499G>C	c.(3499-3501)Gag>Cag	p.E1167Q	DHX30_uc003crt.3_Missense_Mutation_p.E1128Q	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1167						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTACAGGAGGAGCACGGGCA	0.672000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390944	100390944	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:100390944G>A	uc003pqh.1	-	3	783	c.468C>T	c.(466-468)ggC>ggT	p.G156G	MCHR2_uc003pqi.1_Silent_p.G156G	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	156						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGCCCAAAGGCCCAAATTGA	0.468000													38	78					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	rs148650284		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:9577542C>T	uc002mlp.1	-	9	2291	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378000													35	119					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900459	41900459	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900459C>G	uc010skn.2	+	3	1053	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	PDZRN4_uc001rmq.4_Missense_Mutation_p.L91V|PDZRN4_uc009zjz.3_Missense_Mutation_p.L89V|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	349							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTGGCCAAGCTTCGTCCACC	0.488000													11	61					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590205	138590205	+	Silent	SNP	G	G	A	rs145506287	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:138590205G>A	uc010nbe.3	-	2	376	c.315C>T	c.(313-315)agC>agT	p.S105S	SOHLH1_uc004cgl.3_Silent_p.S105S	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	105	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCCAGGGCGCTGGCAAGCC	0.657000													92	89					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463673	24463673	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:24463673C>T	uc001biq.2	-	2	506	c.303G>A	c.(301-303)gcG>gcA	p.A101A	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.A101A	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	101	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACCGGCCTCCCGCACTGACAG	0.612000													26	52					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319382	83319382	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:83319382A>G	uc004eej.2	-	21	2177	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	RPS6KA6_uc011mqt.2_Missense_Mutation_p.L714P|RPS6KA6_uc011mqu.2_Missense_Mutation_p.L611P	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	714					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTGTGAGTCAGGGCAGAGTA	0.418000													8	12					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586601	143586601	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:143586601G>T	uc003lnm.1	+	2	953	c.324G>T	c.(322-324)agG>agT	p.R108S	KCTD16_uc003lnn.1_Missense_Mutation_p.R108S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	108						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468000													31	35					2.70662e-09	2.96037e-09	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	rs121913286		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178936094C>G	uc003fjk.3	+	9	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	21					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5008161	5008161	+	Missense_Mutation	SNP	G	G	A	rs1138575		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr10:5008161G>A	uc001iho.3	+	6	981	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AKR1C3_uc001ihr.3_Missense_Mutation_p.R47H|AKR1C3_uc009xhx.2_Missense_Mutation_p.R47H|AKR1C3_uc001ihq.3_Missense_Mutation_p.R47H	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	47					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R47C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GCTGGCTTCCGCCATATTGAT	0.438000													21	48					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76741233	76741233	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:76741233A>T	uc001syd.1	-	1	616	c.532T>A	c.(532-534)Ttt>Att	p.F178I		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	178					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTTCCACAAAAGTATGCTTCT	0.353000									Bardet-Biedl syndrome				9	28					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625007	154625007	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:154625007G>T	uc003inq.3	+	2	1167	c.948G>T	c.(946-948)agG>agT	p.R316S	TLR2_uc003inr.3_Missense_Mutation_p.R316S|TLR2_uc003ins.3_Missense_Mutation_p.R316S|TLR2_uc021xtl.1_Missense_Mutation_p.R316S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	316					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATCCGGAGGCTGCATATTC	0.338000													14	53					2.31682e-05	2.45724e-05	1	1	0
MIA2	117153	broad.mit.edu	37	14	39722040	39722040	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr14:39722040G>A	uc001wux.3	+	4	1850	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378000													8	32					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204946828	204946828	+	Silent	SNP	T	T	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:204946828T>A	uc010prc.2	+	15	2081	c.552T>A	c.(550-552)acT>acA	p.T184T	NFASC_uc001hbj.3_Silent_p.T617T|NFASC_uc010pra.2_Intron|NFASC_uc001hbi.3_Intron|NFASC_uc010prb.2_Silent_p.T628T|NFASC_uc001hbk.1_Intron			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	617	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACTCCAACTAACCGTTTGG	0.547000													17	28					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41682066	41682066	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:41682066A>G	uc003gvz.4	+	23	3980	c.3563A>G	c.(3562-3564)gAa>gGa	p.E1188G	LIMCH1_uc003gwe.4_Missense_Mutation_p.E727G|LIMCH1_uc003gvu.4_Missense_Mutation_p.E804G|LIMCH1_uc003gvv.4_Missense_Mutation_p.E804G|LIMCH1_uc003gvw.4_Missense_Mutation_p.E803G|LIMCH1_uc003gvx.4_Missense_Mutation_p.E816G|LIMCH1_uc003gvy.4_Missense_Mutation_p.E632G|LIMCH1_uc003gwa.4_Missense_Mutation_p.E644G|LIMCH1_uc011byu.2_Missense_Mutation_p.E637G|LIMCH1_uc003gwc.4_Missense_Mutation_p.E649G|LIMCH1_uc003gwd.4_Missense_Mutation_p.E637G|LIMCH1_uc011byv.2_Missense_Mutation_p.E554G|LIMCH1_uc011byw.2_Missense_Mutation_p.E103G	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	804					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAGAGTGGGAAAAGGCCCAA	0.448000													8	21					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019286	55019286	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:55019286C>A	uc002qgc.3	+	2	373	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.A84D|LAIR2_uc010erl.3_Missense_Mutation_p.A84D	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	84	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGTCAGAGGCCAGATTCCAC	0.502000													6	100					5.9392e-07	6.39606e-07	1	1	0
CBLN4	140689	broad.mit.edu	37	20	54578992	54578992	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:54578992G>T	uc002xxa.3	-	0	1021	c.236C>A	c.(235-237)aCc>aAc	p.T79N		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	79	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTCGTGGTTGGTGCTCCGCAC	0.652000													61	198					7.92265e-33	9.09156e-33	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158449814	158449814	+	Silent	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:158449814A>G	uc010pik.2	+	0	147	c.147A>G	c.(145-147)gtA>gtG	p.V49V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCTCTTTGTAGTTTTTCTTT	0.448000													46	43					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:115080343G>T	uc001ppi.4	-	7	1158	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(10)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													4	53					0.00024832	0.000255624	1	1	0
ACTRT3	84517	broad.mit.edu	37	3	169487113	169487113	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:169487113T>C	uc003ffs.2	-	0	571	c.196A>G	c.(196-198)Atc>Gtc	p.I66V	TRNA_Val_uc021xhc.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Homo sapiens actin related protein M1 (ARPM1), mRNA.	66						cytoplasm|cytoskeleton											AGGTACCTGATGAACAGCGAG	0.701000													9	14					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:184764460C>T	uc001gra.3	-	13	2632	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657000													31	131					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50327154	50327154	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:50327154C>T	uc003czb.3	-	8	1084	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	IFRD2_uc011bdp.2_Missense_Mutation_p.A260T	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	260							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGTCAGCGGCAGCCACG	0.617000													4	4					0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26644262	26644262	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr2:26644262G>A	uc002rhg.2	+	2	424	c.350G>A	c.(349-351)cGt>cAt	p.R117H	CCDC164_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	117										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						GAGATAAAGCGTCAAAGGTAA	0.493000													7	26					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023395	18023395	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:18023395C>T	uc021trm.1	+	0	1500	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	MYO15A_uc021trl.1_Silent_p.H427H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	427	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667000													15	56					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131188677	131188677	+	Silent	SNP	T	T	C	rs145251245		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:131188677T>C	uc003qch.2	-	15	2834	c.2652A>G	c.(2650-2652)tcA>tcG	p.S884S	EPB41L2_uc003qce.1_Silent_p.S262S|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Silent_p.S731S|EPB41L2_uc003qcg.1_Silent_p.S626S|EPB41L2_uc003qci.3_Silent_p.S731S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.S45S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	884	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGTCCTTTGTGAGGCATCAG	0.408000													5	65					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40500443	40500443	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:40500443C>T	uc002hzl.1	-	1	332	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	STAT3_uc002hzk.1_Missense_Mutation_p.R31Q|STAT3_uc002hzm.1_Missense_Mutation_p.R31Q|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Missense_Mutation_p.R31Q	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	31					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAAACTGCCGCAGCTCCAT	0.483000									Hyperimmunoglobulin E Recurrent Infection Syndrome				27	49					0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000163	46000163	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46000163C>G	uc002zfl.1	-	0	319	c.293G>C	c.(292-294)tGc>tCc	p.C98S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	98	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcaggcagcacacaggctt	0.652000													60	89					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534096	6534096	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:6534096G>A	uc001anp.1	-	7	1297	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	PLEKHG5_uc001ann.1_Missense_Mutation_p.R227C|PLEKHG5_uc001ano.1_Missense_Mutation_p.R246C|PLEKHG5_uc001anq.1_Missense_Mutation_p.R267C|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.R30C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R259C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R190C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R190C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R190C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R190C	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	246					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCGGCGGCTCTGGGCG	0.701000													7	21					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848775	53848775	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:53848775G>A	uc010ydv.1	+	2	149	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF845_uc010ydw.1_Missense_Mutation_p.R11K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTGACATTCAGGGATGTGGCC	0.443000													45	101					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320364	46320364	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46320364C>T	uc002zgd.2	-	5	812	c.768G>A	c.(766-768)acG>acA	p.T256T	ITGB2_uc002zgf.3_Silent_p.T256T|ITGB2_uc011afl.1_Silent_p.T178T|ITGB2_uc010gpw.2_Silent_p.T199T|ITGB2_uc002zgg.2_Silent_p.T256T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	256	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCAGCCGCGTGACGTTGC	0.657000													41	63					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47694709	47694709	+	Silent	SNP	C	C	T	rs17853186		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:47694709C>T	uc002eev.4	+	21	2227	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	PHKB_uc002eeu.4_Silent_p.H718H	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	725					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACCCACCCACGAAATTCTTC	0.478000													27	69					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	rs146684411	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:7586119C>T	uc010sge.2	-	2	322	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_uc001qsy.3_Missense_Mutation_p.R99H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478000													13	65					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178916944A>G	uc003fjk.3	+	1	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	111					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(25)|p.K111N(13)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111_I112>N(1)|p.K111R(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	42					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:86374058C>T	uc010sum.2	-	5	677	c.518G>A	c.(517-519)cGt>cAt	p.R173H	MGAT4C_uc001tal.4_Missense_Mutation_p.R149H|MGAT4C_uc001taj.4_Missense_Mutation_p.R149H|MGAT4C_uc001tak.4_Missense_Mutation_p.R149H|MGAT4C_uc001tai.4_Missense_Mutation_p.R149H|MGAT4C_uc001tah.4_Missense_Mutation_p.R149H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398000													24	71					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331778	107331778	+	Silent	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:107331778G>A	uc011lvo.2	+	0	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGGGCCACGGAGTGCATGA	0.502000													27	57					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477144	28477144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:28477144G>A	uc009vte.3	-	2	724	c.389C>T	c.(388-390)aCc>aTc	p.T130I	PTAFR_uc021ojz.1_Missense_Mutation_p.T130I|PTAFR_uc001bpl.3_Missense_Mutation_p.T130I|PTAFR_uc001bpm.4_Missense_Mutation_p.T130I|PTAFR_uc021oka.1_Missense_Mutation_p.T130I	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	130					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTTGCGGGTGTTGGCCTG	0.557000													66	73					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567000													24	57					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937659	6937659	+	Splice_Site	SNP	G	G	A			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:6937659G>A	uc002mfw.3	+	20	2693	c.2655_splice	c.e20+1	p.T885_splice	EMR1_uc010dvc.3_Splice_Site_p.T820_splice|EMR1_uc010dvb.3_Splice_Site_p.T866_splice|EMR1_uc010xji.2_Splice_Site_p.T744_splice|EMR1_uc010xjj.2_Splice_Site_p.T708_splice	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	885					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582000													32	70					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655059	75655059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:75655059C>T	uc002bah.3	-	6	838	c.821G>A	c.(820-822)aGg>aAg	p.R274K	MAN2C1_uc010bkk.3_Intron|MAN2C1_uc002baf.3_Missense_Mutation_p.R274K|MAN2C1_uc002bag.3_Missense_Mutation_p.R274K|MAN2C1_uc010umi.1_Missense_Mutation_p.R56K|MAN2C1_uc010umj.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.V273V(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCACATTTCCTCACAGTCTC	0.617000													11	25					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78444669	78444669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:78444669C>T	uc001syp.3	+	10	2431	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	NAV3_uc001syo.3_Missense_Mutation_p.A753V|NAV3_uc010sub.2_Missense_Mutation_p.A253V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	753						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACTTCAGGCGGGAGATGCT	0.572000										HNSCC(70;0.22)			24	32					0	0	1	0	0
CETN3	1070	broad.mit.edu	37	5	89701540	89701540	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:89701540G>T	uc003kjo.3	-	2	355	c.230C>A	c.(229-231)gCc>gAc	p.A77D		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	77	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTCCCTGTGGCTTCTCTGTC	0.343000													12	26					6.40141e-05	6.68804e-05	1	1	0
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	68					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900316	41900316	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900316A>G	uc010skn.2	+	3	910	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDZRN4_uc001rmq.4_Missense_Mutation_p.N43S|PDZRN4_uc009zjz.3_Missense_Mutation_p.N41S	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	301	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTTTTCGCAATGCCAAGGAG	0.473000													10	48					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034027	52034027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:52034027C>T	uc002pwy.3	-	2	822	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SIGLEC6_uc002pwz.3_Missense_Mutation_p.R205Q|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R169Q|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R205Q|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R205Q|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R194Q|SIGLEC6_uc010epa.2_Missense_Mutation_p.R194Q|SIGLEC6_uc010epb.2_Missense_Mutation_p.R158Q	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	205	Ig-like C2-type 1.			RP -> A (in Ref. 4; AAB70702).	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCCTGGGGCCGTGGGGTGAT	0.637000													36	79					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000													4	43					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391362	31391362	+	Silent	SNP	G	G	A	rs148941060		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:31391362G>A	uc002ebt.3	+	25	3103	c.3036G>A	c.(3034-3036)gcG>gcA	p.A1012A	ITGAX_uc002ebu.1_Silent_p.A1012A	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1012					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCCTGGCGCACATTCAGA	0.547000													9	39					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69688108	69688108	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:69688108G>T	uc003hee.3	+	2	1012	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT2B10_uc011cam.2_Missense_Mutation_p.K245N	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	329					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTTGCCAAGATCCCACAAA	0.413000													38	127					9.14704e-12	1.01634e-11	1	1	0
CLEC9A	283420	broad.mit.edu	37	12	10205329	10205329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:10205329C>T	uc001qxa.3	+	3	656	c.43C>T	c.(43-45)Cca>Tca	p.P15S		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	15					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.S14R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGGATAGCCCAGCACCAGA	0.418000													11	49					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586704	15586704	+	Silent	SNP	C	C	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:15586704C>T	uc002nbg.3	-	1	910	c.777G>A	c.(775-777)acG>acA	p.T259T	PGLYRP2_uc002nbf.4_Silent_p.T259T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T259T(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCAAAAGCGTAAAGGTCC	0.617000													16	64					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717376	142717376	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:142717376G>T	uc022cfm.1	-	0	1549	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	SLITRK4_uc022cfl.1_Missense_Mutation_p.L517I|SLITRK4_uc004fbx.3_Missense_Mutation_p.L517I|SLITRK4_uc004fby.3_Missense_Mutation_p.L517I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	517						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGATCAAGGACCCCACTG	0.483000													68	76					9.61844e-40	1.14117e-39	1	1	0
ZSCAN18	65982	broad.mit.edu	37	19	58601354	58601354	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:58601354A>G	uc010yht.1	-	1	479	c.449T>C	c.(448-450)cTg>cCg	p.L150P	ZSCAN18_uc002qrj.3_Missense_Mutation_p.L94P|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.L94P|ZSCAN18_uc002qri.2_Missense_Mutation_p.L94P|ZSCAN18_uc002qrk.1_Missense_Mutation_p.L94P|ZSCAN18_uc002qrl.2_Missense_Mutation_p.L94P	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	94					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAACTGCTCCAGCACCAGCAG	0.677000													33	94					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838415	155838415	+	Silent	SNP	G	G	T			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:155838415G>T	uc003far.2	+	0	79	c.15G>T	c.(13-15)cgG>cgT	p.R5R	KCNAB1_uc011bon.1_Silent_p.R5R	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	5						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGCCCGGACAGGGGCAG	0.502000													46	117					4.37618e-36	5.10555e-36	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25253106	25253108	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:25253106_25253108delCAA	uc003xeg.3	+	44	4712_4714	c.4575_4577delCAA	c.(4573-4578)accaac>acc	p.N1526del	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_In_Frame_Del_p.N1096del|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1526	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGCTGACCAACGAGAGGATC	0.562													8	107	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:28209226_28209228delGCA	uc003xgq.3	-	6	1105_1107	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													7	164	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35733420	35733422	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:35733420_35733422delGAG	uc003zxv.3	+	3	826_828	c.373_375delGAG	c.(373-375)gagdel	p.E126del	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.4_5'Flank|CREB3_uc010mla.3_In_Frame_Del_p.E45del	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.E125delE(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACTGACAGATGAGGAGAAGAGTC	0.493													13	23	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578539	7578555	+	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TGAGGGCAGGGGAGTAC	-	rs137852792		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(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)		AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA	0.548		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)			14	23	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	-	GCG			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:37555322_37555323insGCG	uc002xjg.3	+	0	368_369	c.327_328insGCG	c.(325-330)insGCG	p.116_117insA	FAM83D_uc002xjf.3_In_Frame_Ins_p.116_117insA	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718													4	4	---	---	---	---					
